ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr)

dbSNP: rs755717160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306024 SCV001495379 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543148 SCV003534898 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.3884T>C (p.M1295T) alteration is located in exon 19 (coding exon 18) of the CACNA1H gene. This alteration results from a T to C substitution at nucleotide position 3884, causing the methionine (M) at amino acid position 1295 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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