ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser)

gnomAD frequency: 0.00001  dbSNP: rs554737427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585246 SCV001818628 uncertain significance not provided 2021-06-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001866183 SCV002129972 likely benign Long QT syndrome 2023-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039498 SCV005036801 likely benign Cardiovascular phenotype 2024-01-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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