ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1745T>C (p.Ile582Thr)

gnomAD frequency: 0.00001  dbSNP: rs1348476527
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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 RCV003794946 SCV004588053 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004605046 SCV005099719 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.1745T>C (p.I582T) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a T to C substitution at nucleotide position 1745, causing the isoleucine (I) at amino acid position 582 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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