ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)

gnomAD frequency: 0.00024  dbSNP: rs199512932
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000996789 SCV000526293 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000996789 SCV000612526 likely benign not provided 2019-09-23 criteria provided, single submitter clinical testing
Invitae RCV000559097 SCV000656747 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318451 SCV000850347 likely benign Inborn genetic diseases 2019-01-07 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.
CeGaT Center for Human Genetics Tuebingen RCV000996789 SCV001151711 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CACNA1A: PP2, BS1
Institute of Human Genetics, University of Leipzig Medical Center RCV001253187 SCV001428779 uncertain significance Developmental and epileptic encephalopathy, 42 2019-08-19 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224277 SCV003920645 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-03-30 criteria provided, single submitter clinical testing CACNA1A NM_001127221.1 exon 20 p.Ala1077Val (c.3230C>T): This variant has not been reported in the literature but is present in 37/124988 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs199512932). This variant is present in ClinVar (Variation ID:385136). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003985339 SCV004758075 likely benign CACNA1A-related disorder 2023-06-19 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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