ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)

dbSNP: rs1008642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212042 SCV001383615 pathogenic Long QT syndrome 2022-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 8289). This missense change has been observed in individuals with clinical features of autosomal dominant CAV3-related conditions (PMID: 15564037, 15580566, 27061274; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 33 of the CAV3 protein (p.Asn33Lys).
OMIM RCV000008786 SCV000028996 pathogenic Distal myopathy, Tateyama type 2005-01-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (CAV3) RCV000008786 SCV000045708 not provided Distal myopathy, Tateyama type 2012-04-15 no assertion provided curation

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