ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1622A>C (p.Asn541Thr)

dbSNP: rs201202700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040731 SCV001204320 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2020-06-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 541 of the CASR protein (p.Asn541Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine. 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CASR-related conditions. This variant is not present in population databases (ExAC no frequency).

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