ClinVar Miner

Submissions for variant NM_133497.4(KCNV2):c.1096del (p.Val366fs)

dbSNP: rs1486482604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Molecular Genetics, University of Zurich RCV001352978 SCV001548061 likely pathogenic Cone dystrophy with supernormal rod response 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV002548491 SCV003518701 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1048137). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the KCNV2 protein in which other variant(s) (p.Leu469Trpfs*35) have been determined to be pathogenic (PMID: 18400204). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with KCNV2-related conditions (PMID: 33546218). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val366Trpfs*88) in the KCNV2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 180 amino acid(s) of the KCNV2 protein.

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