ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1624_1626del (p.Cys542del)

dbSNP: rs1060502846
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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 RCV000473355 SCV000550958 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2018-07-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant has not been reported in the literature in individuals with CASR-related disease. ClinVar contains an entry for this variant (Variation ID: 410325). This variant, c.1624_1626delTGC, results in the deletion of 1 amino acid of the CASR protein (p.Cys542del), but otherwise preserves the integrity of the reading frame.

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