ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3511G>A (p.Gly1171Ser)

dbSNP: rs753966852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216017 SCV001387789 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2019-05-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1H-related conditions. While this variant is present in population databases (rs753966852), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with serine at codon 1171 of the CACNA1H protein (p.Gly1171Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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