ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2264dup (p.Tyr755Ter)

dbSNP: rs1587652899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008721 SCV001168502 likely pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing The c.2264dupA variant in the ROR2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation resulting in a stop codon where the last 189 amino acids are lost. The c.2264dupA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2264dupA as a likely pathogenic variant.

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