ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)

gnomAD frequency: 0.00007  dbSNP: rs754998423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797425 SCV000936980 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-15 criteria provided, single submitter clinical testing
GeneDx RCV002508258 SCV002818039 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002537045 SCV003552670 likely benign Inborn genetic diseases 2021-06-08 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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