ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)

dbSNP: rs1182984115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222783 SCV001394899 pathogenic Long QT syndrome 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 950959). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Cys19*) in the CAV3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAV3 are known to be pathogenic (PMID: 18487559).
Mayo Clinic Laboratories, Mayo Clinic RCV001509209 SCV001715804 likely pathogenic not provided 2020-04-16 criteria provided, single submitter clinical testing PVS1, PM2
AiLife Diagnostics, AiLife Diagnostics RCV001509209 SCV002502078 uncertain significance not provided 2022-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163726 SCV003864390 uncertain significance Cardiovascular phenotype 2022-12-02 criteria provided, single submitter clinical testing The p.C19* variant (also known as c.57C>A), located in coding exon 1 of the CAV3 gene, results from a C to A substitution at nucleotide position 57. This changes the amino acid from a cysteine to a stop codon within coding exon 1. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Although truncating variants have been implicated in autosomal recessive caveolinopathy, loss of function has not been established as a mechanism of disease for autosomal dominant caveolinopathy (Müller JS et al. Neuromuscul Disord, 2006 Jul;16:432-6; Ueyama H et al. Neuromuscul Disord, 2007 Jul;17:558-61; Traverso M et al. J Neurol Neurosurg Psychiatry, 2008 Jun;79:735-7). Based on the supporting evidence, this variant is expected to be pathogenic for autosomal recessive caveolinopathy when present along with a second pathogenic variant on the other allele; however, the clinical significance of this variant in the heterozygous state is unclear.

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