NM_002340.6(LSS):c.1887G>T (p.Trp629Cys) AND Cataract 44

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 10, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000735948.2

Allele description [Variation Report for NM_002340.6(LSS):c.1887G>T (p.Trp629Cys)]

NM_002340.6(LSS):c.1887G>T (p.Trp629Cys)

Gene:

LSS:lanosterol synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_002340.6(LSS):c.1887G>T (p.Trp629Cys)

HGVS:

NC_000021.9:g.46194592C>A
NG_011510.1:g.39233G>T
NM_001001438.3:c.1887G>T
NM_001145436.2:c.1854G>T
NM_001145437.2:c.1647G>T
NM_002340.6:c.1887G>TMANE SELECT
NP_001001438.1:p.Trp629Cys
NP_001001438.1:p.Trp629Cys
NP_001138908.1:p.Trp618Cys
NP_001138909.1:p.Trp549Cys
NP_002331.3:p.Trp629Cys
NC_000021.8:g.47614506C>A
NM_001001438.2:c.1887G>T

Protein change:

W549C; TRP629CYS

Links:

OMIM: 600909.0004; dbSNP: rs764098604

NCBI 1000 Genomes Browser:

rs764098604

Molecular consequence:

NM_001001438.3:c.1887G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145436.2:c.1854G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145437.2:c.1647G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002340.6:c.1887G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cataract 44 (CTRCT44)
Synonyms:: CATARACT 44 AND HYPOTRICHOSIS
Identifiers:: MONDO: MONDO:0014673; MedGen: C4225300; Orphanet: 91492; Orphanet: 98994; OMIM: 616509

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000864137	OMIM	no assertion criteria provided	Pathogenic (Feb 10, 2022)	germline	literature only	Chen, X., Liu, L. Congenital cataract with LSS gene mutations: a new case report. J. Pediat. Endocr. Metab. 30: 1231-1235, 2017.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000864137

OMIM

no assertion criteria provided

Pathogenic
(Feb 10, 2022)

germline

literature only

Chen, X., Liu, L. Congenital cataract with LSS gene mutations: a new case report. J. Pediat. Endocr. Metab. 30: 1231-1235, 2017.

Help

Summary from all submissions

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

Details of each submission

From OMIM, SCV000864137.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

For discussion of the c.1887G-T transversion (c.1887G-T, NM_001001438.2) in the LSS gene, resulting in a trp629-to-cys (W629C) substitution, that was found in compound heterozygous state in a Chinese boy with congenital cataract and baldness (CTRCT44; 616509) by Chen and Liu (2017), see 600909.0003.

#	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

Last Updated: Mar 18, 2023

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