NM_004859.4(CLTC):c.3637GCT[1] (p.Ala1214del) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2018
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:: RCV000598613.1

Allele description [Variation Report for NM_004859.4(CLTC):c.3637GCT[1] (p.Ala1214del)]

NM_004859.4(CLTC):c.3637GCT[1] (p.Ala1214del)

Gene:

CLTC:clathrin heavy chain [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q23.1

Genomic location:

Preferred name:

NM_004859.4(CLTC):c.3637GCT[1] (p.Ala1214del)

HGVS:

NC_000017.11:g.59682665GCT[1]
NG_047043.1:g.67977GCT[1]
NM_001288653.2:c.3649GCT[1]
NM_004859.4:c.3637GCT[1]MANE SELECT
NP_001275582.1:p.Ala1218del
NP_004850.1:p.Ala1214del
NC_000017.10:g.57760026GCT[1]
NM_001288653.1:c.3652_3654delGCT

Protein change:

A1214del

Links:

dbSNP: rs1555607332

NCBI 1000 Genomes Browser:

rs1555607332

Molecular consequence:

NM_001288653.2:c.3649GCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004859.4:c.3637GCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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
SCV000710442	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710442

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 1, 2018)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000710442.2

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

Description

The c.3652_3654delGCT variant in the CLTC gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3652_3654delGCT variant results in an in-frame deletion of a single Alanine residue, denoted p.Ala1218del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Furthermore, this variant is not observed in large population cohorts (Lek et al., 2016). Therefore, we interpret c.3652_3654delGCT as a pathogenic variant.

#	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: Apr 23, 2022

ClinVar

Relating variation to medicine