ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs)

dbSNP: rs2074924614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222013 SCV001394092 pathogenic Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-04-03 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 the C-terminus of the CASR protein. Other variant(s) that disrupt this region (p.W718X) have been determined to be pathogenic (PMID: 18796518, 9395465). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 950326). This sequence change results in a premature translational stop signal in the CASR gene (p.Ala645Cysfs*65). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 434 amino acids of the CASR protein.

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