ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)

gnomAD frequency: 0.00616  dbSNP: rs16020
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116518 SCV000150467 benign not specified 2019-04-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000116518 SCV000331730 benign not specified 2015-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000116518 SCV000524679 benign not specified 2016-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514339 SCV000610384 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081343 SCV000656729 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316297 SCV000849526 benign Inborn genetic diseases 2016-06-27 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.
Athena Diagnostics RCV000116518 SCV001476217 benign not specified 2020-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985269 SCV004753304 benign CACNA1A-related disorder 2019-06-14 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV000514339 SCV005209543 likely benign not provided criteria provided, single submitter not provided

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