ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2533_2545del (p.Ser845fs)

dbSNP: rs2107650671
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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 RCV001913409 SCV002187041 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-08-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CASR protein in which other variant(s) (p.Arg886Pro) have been determined to be pathogenic (PMID: 11807402, 20798521). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with CASR-related conditions. This sequence change creates a premature translational stop signal (p.Ser845Trpfs*90) in the CASR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 234 amino acid(s) of the CASR protein.

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