ClinVar Miner

Submissions for variant NM_001007792.1(NTRK1):c.542T>A (p.Val181Glu) (rs1064793219)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484442 SCV000565334 likely pathogenic not provided 2014-09-03 criteria provided, single submitter clinical testing A novel V211E variant that is likely pathogenic was identified in the NTRK1 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The V211E variant was not observed in approximately 6,400 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. The V211E 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 in the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in a nearby residue (L213P) has been reported in the Human Gene Mutation Database in association with congenital pain insensitivity (Stenson et al., 2009), supporting the functional importance of this region of the protein. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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