ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.153G>A (p.Ser51=)

gnomAD frequency: 0.00001  dbSNP: rs563315606
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198405 SCV000254656 likely benign Long QT syndrome 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165470 SCV003896190 likely benign Cardiovascular phenotype 2023-01-12 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.
CeGaT Center for Human Genetics Tuebingen RCV003390942 SCV004129702 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CACNA1C: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003955211 SCV004766817 likely benign CACNA1C-related disorder 2019-07-12 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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