ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.667T>C (p.Trp223Arg) (rs1555608740)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659966 SCV000781878 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000680812 SCV000808258 likely pathogenic not provided 2018-04-27 criteria provided, single submitter clinical testing The W223R variant has been published previously in association with neurofibromatosis type 1, including an apparently de novo occurrence (Griffiths et al., 2007; Cal?¼ et al., 2016; Santoro et al., 2018). The variant is not observed in large population cohorts (Lek et al., 2016). W223R 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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