NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) AND KCNV2-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 30, 2024
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:: RCV003430644.5

Allele description [Variation Report for NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)]

NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)

Gene:

KCNV2:potassium voltage-gated channel modifier subfamily V member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.2

Genomic location:

Preferred name:

NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)

HGVS:

NC_000009.12:g.2729470G>A
NG_012181.1:g.16945G>A
NM_133497.4:c.1381G>AMANE SELECT
NP_598004.1:p.Gly461Arg
NC_000009.11:g.2729470G>A
NM_133497.3:c.1381G>A

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

G461R; GLY461ARG

Links:

OMIM: 607604.0006; dbSNP: rs149648640

NCBI 1000 Genomes Browser:

rs149648640

Molecular consequence:

NM_133497.4:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: KCNV2-related disorder
Synonyms:: KCNV2-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004116485	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Aug 30, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004116485

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Aug 30, 2024)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116485.2

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

Description

The KCNV2 c.1381G>A variant is predicted to result in the amino acid substitution p.Gly461Arg. This variant has been reported in the homozygous and compound heterozygous states in multiple individuals with retinal cone dystrophy (Thiagalingam et al. 2007. PubMed ID: 17896311; Friedburg et al. 2011. PubMed ID: 21911584; Fujinami et al. 2013. PubMed ID: 23885164; Table S2 in Weisschuh et al. 2020. PubMed ID: 32531858; Supplementary Data in Lin S et al 2024. PubMed ID: 38219857; Table S3 in Suga A et al 2022. PubMed ID: 36284460). This variant is reported in 0.024% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant has been classified as pathogenic or likely pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/37247). Given the evidence, we interpret c.1381G>A (p.Gly461Arg) as pathogenic.

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

Last Updated: Oct 26, 2024

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