ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr)

gnomAD frequency: 0.00015  dbSNP: rs202118773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001654921 SCV001869356 benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001654921 SCV002406933 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458742 SCV004179706 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968228 SCV005552700 likely benign Inborn genetic diseases 2024-10-02 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.
PreventionGenetics, part of Exact Sciences RCV003948654 SCV004764094 likely benign CACNA1E-related disorder 2019-11-01 no assertion criteria provided 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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