ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2942A>G (p.Glu981Gly)

gnomAD frequency: 0.00001  dbSNP: rs766653315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204683 SCV001375900 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-09-01 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. 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. ClinVar contains an entry for this variant (Variation ID: 935976). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 981 of the CASR protein (p.Glu981Gly).
Revvity Omics, Revvity Omics RCV003145374 SCV003829250 uncertain significance not provided 2021-02-04 criteria provided, single submitter clinical testing

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