ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)

gnomAD frequency: 0.00003  dbSNP: rs574809183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795782 SCV000935257 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334114 SCV001526860 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2018-05-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002537008 SCV003706163 likely benign Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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