ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)

dbSNP: rs766445416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335285 SCV001528400 uncertain significance Neonatal severe primary hyperparathyroidism 2018-07-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871870 SCV002241185 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033006). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 857 of the CASR protein (p.Ile857Asn). The isoleucine residue is weakly conserved and there is a large physicochemical difference between isoleucine and asparagine.

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