ClinVar Miner

Submissions for variant NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) (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 uncertain significance Long QT syndrome 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 33 of the CAV3 protein (p.Asn33Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with distal myopathy and to segregate with disease in families (PMID: 15580566, 15564037). This variant has also been observed in individuals with asymptomatic hyperCKemia (PMID: 27061274). ClinVar contains an entry for this variant (Variation ID: 8289). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
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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