ClinVar Miner

Submissions for variant NM_033337.2(CAV3):c.294C>A (p.Cys98Ter) (rs200202503)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171636 SCV000055266 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV001221300 SCV001393337 likely pathogenic Long QT syndrome 2019-05-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CAV3 gene (p.Cys98*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acids of the CAV3 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) unselected for cardiac conditions undergoing exome sequencing (PMID: 23861362). ClinVar contains an entry for this variant (Variation ID: 191444). This variant disrupts the p.Pro105 amino acid residue in CAV3. Other variants that disrupt this residue have been determined to be pathogenic (PMID: 9537420,18509671, 19238754, 21182936, 28232187, 30153853). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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