ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn)

gnomAD frequency: 0.00002  dbSNP: rs375121203
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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 RCV000688320 SCV000815926 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547122 SCV003714275 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.1144G>A (p.D382N) alteration is located in exon 8 (coding exon 7) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 1144, causing the aspartic acid (D) at amino acid position 382 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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