ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val)

dbSNP: rs766946572
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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 RCV001967916 SCV002226005 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-05-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNA1H protein function. ClinVar contains an entry for this variant (Variation ID: 1441430). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 985 of the CACNA1H protein (p.Ala985Val).
Fulgent Genetics, Fulgent Genetics RCV002492046 SCV002804041 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-27 criteria provided, single submitter clinical testing

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