NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) AND Groenouw corneal dystrophy type I

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 22, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000008315.9

Allele description [Variation Report for NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)]

NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)

Gene:

TGFBI:transforming growth factor beta induced [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.1

Genomic location:

Preferred name:

NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)

HGVS:

NC_000005.10:g.136056780C>T
NG_012646.1:g.32886C>T
NM_000358.3:c.1663C>TMANE SELECT
NP_000349.1:p.Arg555Trp
NC_000005.9:g.135392469C>T
NM_000358.2:c.1663C>T
Q15582:p.Arg555Trp

Protein change:

R555W; ARG555TRP

Links:

UniProtKB: Q15582#VAR_005083; OMIM: 601692.0001; dbSNP: rs121909208

NCBI 1000 Genomes Browser:

rs121909208

Molecular consequence:

NM_000358.3:c.1663C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Groenouw corneal dystrophy type I (CDGG1)
Synonyms:: GRANULAR CORNEAL DYSTROPHY, TYPE I; Corneal dystrophy punctate or nodular
Identifiers:: MONDO: MONDO:0007377; MedGen: C1641846; Orphanet: 98962; OMIM: 121900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028523	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1998)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 9054935, 9727509
SCV001981651	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 22, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028523

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1998)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001981651

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 22, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF.

Nat Genet. 1997 Mar;15(3):247-51.

PubMed [citation]

PMID:: 9054935

Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.

Okada M, Yamamoto S, Watanabe H, Inoue Y, Tsujikawa M, Maeda N, Shimomura Y, Nishida K, Kinoshita S, Tano Y.

Am J Ophthalmol. 1998 Aug;126(2):169-76.

PubMed [citation]

PMID:: 9727509

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000028523.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a family with corneal dystrophy of the granular Groenouw type I (CDGG1; 121900), Munier et al. (1997) identified a mutation at the CpG dinucleotide of an arginine codon in the TGFBI gene, resulting in an arg555-to-trp (R555W) substitution.

Okada et al. (1998) described a Japanese family with affected members in at least 5 generations. Three members were the offspring of a consanguineous marriage of 2 affected individuals and presented with a severe placoid type of corneal dystrophy. The phenotype of other affected members was typical granular corneal dystrophy. The severely affected family members were homozygous for the R555W mutation in the TGFBI gene. Okada et al. (1998) claimed that granular corneal dystrophy was the first ophthalmic disease in which homozygosity for a dominant allele had been molecularly identified.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genetics and Molecular Pathology, SA Pathology, SCV001981651.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

ClinVar

Relating variation to medicine