ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3679G>A (p.Asp1227Asn)

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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 RCV003799565 SCV004585174 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723483 SCV005337551 uncertain significance CACNA1H-related disorder 2024-04-06 no assertion criteria provided clinical testing The CACNA1H c.3679G>A variant is predicted to result in the amino acid substitution p.Asp1227Asn. This variant was reported in an individual with autism spectrum disorder (16:1209347:G:A at Supplementary Table 20 of Fu et al. 2022. PubMed ID: 35982160). This variant is reported in 0.014% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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