ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)

gnomAD frequency: 0.00007  dbSNP: rs576035669
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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 RCV001235299 SCV001407978 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484287 SCV002776906 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563251 SCV003692102 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.3583C>T (p.R1195W) 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 3583, causing the arginine (R) at amino acid position 1195 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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