ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2877del (p.Gln959fs)

dbSNP: rs2107651423
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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 RCV001885807 SCV002138082 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln959Hisfs*19) in the CASR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 120 amino acid(s) of the CASR protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CASR-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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