ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.361C>T (p.Arg121Trp) (rs104894878)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484893 SCV000565314 likely pathogenic not provided 2015-12-03 criteria provided, single submitter clinical testing The R121W variant in the NDP gene has been reported previously in association with X-linked familial exudative vitreoretinopathy (Meindl et al., 1995; Pelcastre et al., 2010; Fuchs et al., 1995; Wu et al., 2007). The R121W variant was not observed in approximately 6,488 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R121W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information R121W is interpreted to be a likely pathogenic variant.
OMIM RCV000011434 SCV000031666 pathogenic Familial exudative vitreoretinopathy, X-linked 1998-05-08 no assertion criteria provided literature only

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