ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1549A>G (p.Lys517Glu)

gnomAD frequency: 0.00004  dbSNP: rs768663095
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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 RCV001238687 SCV001411513 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-09-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 517 of the CASR protein (p.Lys517Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CASR-related conditions. This variant is present in population databases (rs768663095, ExAC 0.02%).

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