ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)

gnomAD frequency: 0.00002  dbSNP: rs757893642
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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 RCV000806409 SCV000946405 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507396 SCV002814865 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004962827 SCV005552812 likely benign Inborn genetic diseases 2024-10-01 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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