ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)

gnomAD frequency: 0.00003  dbSNP: rs773015884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691780 SCV000819571 likely benign Long QT syndrome 2024-01-12 criteria provided, single submitter clinical testing
New York Genome Center RCV002265861 SCV002548594 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424628 SCV002742803 benign Cardiovascular phenotype 2022-09-08 criteria provided, single submitter clinical testing This alteration is classified as 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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