ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1728G>C (p.Glu576Asp)

dbSNP: rs2074899858
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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 RCV001224938 SCV001397165 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-06-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CASR-related conditions. This sequence change replaces glutamic acid with aspartic acid at codon 576 of the CASR protein (p.Glu576Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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, 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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