ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3706T>C (p.Trp1236Arg) (rs1555615111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522650 SCV000619355 likely pathogenic not provided 2017-07-24 criteria provided, single submitter clinical testing The W1236R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). W1236R 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 within the GTPase activating protein kinase domain that is conserved across species; this domain has been shown to be critical for NF1 protein function (Thomas et al., 2012). In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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