ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)

gnomAD frequency: 0.00006  dbSNP: rs753993842
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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 RCV001207962 SCV001379330 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484123 SCV002791699 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561667 SCV003702534 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.3448C>T (p.R1150C) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 3448, causing the arginine (R) at amino acid position 1150 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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