ClinVar Miner

Submissions for variant NM_001234.5(CAV3):c.169G>A (p.Val57Met) (rs116840795)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706810 SCV000835881 likely pathogenic Long QT syndrome 2018-01-08 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 57 of the CAV3 protein (p.Val57Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs116840795, ExAC 0.01%). This variant has been reported in individuals affected with hyperCKaemia (PMID: 15099591, 27772553) and electrical myotonia (PMID: 22581547). ClinVar contains an entry for this variant (Variation ID: 31708). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171082 SCV001333752 uncertain significance Cardiomyopathy 2019-03-27 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (CAV3) RCV000024391 SCV000045685 not provided not provided 2012-04-15 no assertion provided curation

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