ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His)

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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 RCV003022001 SCV003316683 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004068605 SCV004914950 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.5750G>A (p.R1917H) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 5750, causing the arginine (R) at amino acid position 1917 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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