ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.61G>A (p.Gly21Arg)

dbSNP: rs1064794290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484137 SCV000568683 uncertain significance not provided 2019-09-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in individuals with suspected familial hypocalciuric hypercalcemia (Nissen 2007, Vargas-Poussou 2016); This variant is associated with the following publications: (PMID: 17698911, 26963950)
Labcorp Genetics (formerly Invitae), Labcorp RCV000527853 SCV000638079 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 21 of the CASR protein (p.Gly21Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with familial hypocalciuric hypercalcemia (PMID: 17698911, 26963950). ClinVar contains an entry for this variant (Variation ID: 420105). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Athena Diagnostics RCV000484137 SCV001477110 likely pathogenic not provided 2023-08-11 criteria provided, single submitter clinical testing This variant has been identified in multiple unrelated individuals with clinical features associated with autosomal dominant hypocalciuric hypercalcemia. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000484137 SCV005197385 likely pathogenic not provided 2024-03-26 criteria provided, single submitter clinical testing

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