NM_133497.4(KCNV2):c.1638G>C (p.Ter546Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 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:: RCV002015548.6

Allele description [Variation Report for NM_133497.4(KCNV2):c.1638G>C (p.Ter546Tyr)]

NM_133497.4(KCNV2):c.1638G>C (p.Ter546Tyr)

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.1638G>C (p.Ter546Tyr)

HGVS:

NC_000009.12:g.2729727G>C
NG_012181.1:g.17202G>C
NM_133497.4:c.1638G>CMANE SELECT
NP_598004.1:p.Ter546Tyr
NC_000009.11:g.2729727G>C

Links:

dbSNP: rs1465469369

NCBI 1000 Genomes Browser:

rs1465469369

Molecular consequence:

NM_133497.4:c.1638G>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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kappa-casein precursor [Rattus norvegicus]
kappa-casein precursor [Rattus norvegicus]
gi|13928762|ref|NP_113750.1|

Protein
Brongniartella byssoides photosystem I 700 apoprotein A1 (psaA) gene, partial cd...
Brongniartella byssoides photosystem I 700 apoprotein A1 (psaA) gene, partial cds; plastid
gi|115248372|gb|DQ787623.1|

Nucleotide
Astraeosmilia tumida voucher SA1167 COI-trnM intergenic spacer and tRNA-Met gene...
Astraeosmilia tumida voucher SA1167 COI-trnM intergenic spacer and tRNA-Met gene, partial sequence; mitochondrial
gi|2070419162|gb|MW463247.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002295410	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 23, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17896311, 19952985, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002295410

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 23, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP.

Ophthalmic Genet. 2007 Sep;28(3):135-42. Erratum in: Ophthalmic Genet. 2007 Dec;28(4):231.

PubMed [citation]

PMID:: 17896311

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.

Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE.

Retina. 2010 Jan;30(1):51-62. doi: 10.1097/IAE.0b013e3181bfe24e.

PubMed [citation]

PMID:: 19952985

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002295410.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change disrupts the translational stop signal of the KCNV2 mRNA. It is expected to extend the length of the KCNV2 protein by 60 additional amino acid residues. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant results in an extension of the KCNV2 protein. Other variant(s) that result in a similarly extended protein product (p.*546Glnext60) have been observed in individuals with KCNV2-related conditions (PMID: 17896311). This suggests that these extensions may be clinically significant. This variant has been observed in individual(s) with clinical features of KCNV2-related conditions (PMID: 19952985). This variant is not present in population databases (ExAC no frequency).

#	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: Sep 29, 2024

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