ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.416T>C (p.Ile139Thr) (rs1060502860)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458493 SCV000550996 uncertain significance Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2016-04-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 139 of the CASR protein (p.Ile139Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CASR-related disease. 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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000497658 SCV000590871 uncertain significance not specified 2015-12-30 criteria provided, single submitter clinical testing

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