ClinVar Miner

Submissions for variant NM_000388.3(CASR):c.3121C>T (p.Arg1041Trp) (rs193921082)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704147 SCV000833085 uncertain significance Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 2018-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1041 of the CASR protein (p.Arg1041Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs193921082, ExAC 0.006%). This variant has not been reported in the literature in individuals with CASR-related disease. ClinVar contains an entry for this variant (Variation ID: 161466). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Science for Life laboratory, Karolinska Institutet RCV000149000 SCV000088642 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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