ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1054del (p.Trp352fs)

dbSNP: rs2107632814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388364 SCV001589300 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2020-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp352Glyfs*23) in the CASR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CASR are known to be pathogenic (PMID: 22422767). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CASR-related conditions. For these reasons, this variant has been classified as Pathogenic.

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