ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly)

gnomAD frequency: 0.00001  dbSNP: rs985384811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331270 SCV001523272 uncertain significance Syndromic X-linked intellectual disability 14 2019-10-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV004762094 SCV005371831 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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