ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1750A>T (p.Lys584Ter) (rs1057523748)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443881 SCV000533191 likely pathogenic not provided 2016-10-20 criteria provided, single submitter clinical testing A novel K584X nonsense variant that is likely pathogenic was identified in the CASR gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. While the K584X variant is predicted to cause protein truncation, models do not predict it to result in nonsense-mediated mRNA decay. In the absence of RNA/functional studies, the actual effect of the variant in this individual is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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