ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)

gnomAD frequency: 0.00004  dbSNP: rs371324992
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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 RCV000688596 SCV000816216 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485620 SCV002786358 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026300 SCV004915129 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.2183A>G (p.Y728C) alteration is located in exon 10 (coding exon 9) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 2183, causing the tyrosine (Y) at amino acid position 728 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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