ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.527A>G (p.Asn176Ser)

dbSNP: rs1060502849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230396 SCV000550967 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-07-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 176 of the CASR protein (p.Asn176Ser). This variant has not been reported in the literature in individuals affected with CASR-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 410332).
Athena Diagnostics Inc RCV000711043 SCV000841363 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000711043 SCV004226143 uncertain significance not provided 2022-09-26 criteria provided, single submitter clinical testing PM2_supporting

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