ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)

gnomAD frequency: 0.00001  dbSNP: rs535608443
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170817 SCV000223372 uncertain significance not provided 2020-04-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 190679; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV000765083 SCV000896288 uncertain significance Timothy syndrome; Brugada syndrome 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001036246 SCV001199598 likely benign Long QT syndrome 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381543 SCV002693266 likely benign Cardiovascular phenotype 2023-05-18 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.

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