ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=)

gnomAD frequency: 0.00004  dbSNP: rs781180544
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435954 SCV000512448 benign not specified 2015-04-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001443454 SCV001646425 likely benign Long QT syndrome 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402121 SCV002712771 likely benign Cardiovascular phenotype 2019-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003897843 SCV004709374 likely benign CACNA1C-related disorder 2023-01-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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