ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6271G>T (p.Ala2091Ser)

gnomAD frequency: 0.00001  dbSNP: rs749106645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960428 SCV002219915 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV005308623 SCV005975093 uncertain significance Inborn genetic diseases 2025-03-06 criteria provided, single submitter clinical testing The c.6271G>T (p.A2091S) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to T substitution at nucleotide position 6271, causing the alanine (A) at amino acid position 2091 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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