ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)

gnomAD frequency: 0.00001  dbSNP: rs544916201
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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 RCV000792373 SCV000931667 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487643 SCV002782912 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027418 SCV004915123 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.1783G>A (p.A595T) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 1783, causing the alanine (A) at amino acid position 595 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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