ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=)

dbSNP: rs761547761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439134 SCV000532077 likely benign not specified 2016-09-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001472417 SCV001676549 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985348 SCV004734987 likely benign CACNA1A-related disorder 2019-05-23 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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