ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2467C>T (p.Pro823Ser)

dbSNP: rs1576878027
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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 RCV005213415 SCV005852078 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-05-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 823 of the CASR protein (p.Pro823Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypocalciuric hypercalcaemia (PMID: 32347971). ClinVar contains an entry for this variant (Variation ID: 684506). 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. 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.
GenomeConnect, ClinGen RCV000845022 SCV000986855 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 09/19/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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