ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu)

gnomAD frequency: 0.00002  dbSNP: rs768306211
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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 RCV001934050 SCV002211110 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562120 SCV003527465 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.2150C>T (p.S717L) alteration is located in exon 10 (coding exon 9) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 2150, causing the serine (S) at amino acid position 717 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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