ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)

gnomAD frequency: 0.00033  dbSNP: rs776370351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635064 SCV000756442 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483801 SCV002779873 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372778 SCV004056255 uncertain significance Inborn genetic diseases 2023-07-05 criteria provided, single submitter clinical testing The c.1795G>A (p.A599T) 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 1795, causing the alanine (A) at amino acid position 599 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691979 SCV005194070 uncertain significance not provided criteria provided, single submitter not provided

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