ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) (rs1418475623)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516920 SCV000612663 uncertain significance not specified 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV000801507 SCV000941284 uncertain significance Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 850 of the CASR protein (p.Ala850Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CASR-related disease. ClinVar contains an entry for this variant (Variation ID: 446994). 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: "Possibly Damaging"; 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.
Ambry Genetics RCV001015922 SCV001176816 uncertain significance Inborn genetic diseases 2019-09-16 criteria provided, single submitter clinical testing Insufficient evidence

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