ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)

gnomAD frequency: 0.00001  dbSNP: rs756181994
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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 RCV000819021 SCV000959662 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362975 SCV004063391 uncertain significance Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing The c.5777C>T (p.S1926L) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 5777, causing the serine (S) at amino acid position 1926 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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