ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.513C>A (p.Ser171Arg) (rs764149433)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463177 SCV000550988 uncertain significance Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2016-11-02 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 171 of the CASR protein (p.Ser171Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with familial hypocalciuric hypercalcemia (PMID: 26963950). 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. In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000498184 SCV000590872 uncertain significance not specified 2015-12-30 criteria provided, single submitter clinical testing

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