ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2293T>C (p.Cys765Arg)

dbSNP: rs1363412937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797057 SCV000936596 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-09-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 643371). This missense change has been observed in individual(s) with hypercalcemia (PMID: 21369680). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 765 of the CASR protein (p.Cys765Arg). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280856 SCV001468201 likely pathogenic Familial hypocalciuric hypercalcemia 1 2020-09-04 no assertion criteria provided clinical testing

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