ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn)

gnomAD frequency: 0.00012  dbSNP: rs748648178
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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 RCV001081331 SCV001101811 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000955125 SCV001143477 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000955125 SCV005327977 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Reported with a second variant on the opposite allele (in trans) in a patient with myoclonic-atonic epilepsy in published literature (PMID: 31170314); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 31170314)

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