ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)

gnomAD frequency: 0.00004  dbSNP: rs750231498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691224 SCV000818973 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996787 SCV001151709 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing CACNA1A: PM2:Supporting, BP4
GeneDx RCV000996787 SCV001825181 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003985410 SCV004115228 uncertain significance CACNA1A-related disorder 2023-10-13 criteria provided, single submitter clinical testing The CACNA1A c.3622G>A variant is predicted to result in the amino acid substitution p.Asp1208Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0041% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-13395952-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004025081 SCV004916242 likely benign Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing This alteration is classified as likely 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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