ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2519C>T (p.Ala840Val)

dbSNP: rs1553769127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518668 SCV000612662 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527461 SCV003525279 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-02-18 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects CASR function (PMID: 31063613). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 840 of the CASR protein (p.Ala840Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypocalcemia and/or hypoparathyroidism (PMID: 19549694, 24948345, 31063613; Invitae). ClinVar contains an entry for this variant (Variation ID: 446993). 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.

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