ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1169C>G (p.Ala390Gly)

dbSNP: rs757533550
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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 RCV000823771 SCV000964641 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-06-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is present in population databases (rs757533550, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 390 of the CASR protein (p.Ala390Gly). 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 665477).

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