ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=)

gnomAD frequency: 0.00016  dbSNP: rs200330326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703867 SCV000526834 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Invitae RCV000459997 SCV000562894 likely benign Long QT syndrome 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339045 SCV002642579 likely benign Cardiovascular phenotype 2018-07-17 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 RCV003902563 SCV004727070 likely benign CACNA1C-related disorder 2020-06-22 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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