ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met)

gnomAD frequency: 0.00003  dbSNP: rs371500703
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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 RCV000526517 SCV000632119 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483387 SCV002787062 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004601197 SCV005099715 uncertain significance Inborn genetic diseases 2024-06-19 criteria provided, single submitter clinical testing The c.3101C>T (p.T1034M) alteration is located in exon 15 (coding exon 14) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 3101, causing the threonine (T) at amino acid position 1034 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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