ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2825AGC[7] (p.Gln946_Pro947insGlnGln)

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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 RCV003799472 SCV004585056 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-07-28 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2834_2839dup, results in the insertion of 2 amino acid(s) of the CASR protein (p.Gln945_Gln946dup), but otherwise preserves the integrity of the reading frame.

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