ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=)

gnomAD frequency: 0.00002  dbSNP: rs764816582
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318106 SCV000849794 likely benign Inborn genetic diseases 2017-05-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001455995 SCV001659769 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2019-05-08 criteria provided, single submitter clinical testing

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