ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5060C>T (p.Pro1687Leu) (rs376385873)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520173 SCV000621810 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing The P1687L variant in the DYNC2H1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1687L variant is observed in 3/110970 (0.003%) alleles from individuals of non-Finnish European background, in large population cohorts (Lek et al., 2016). The P1687L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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. We interpret P1687L as a variant of uncertain significance.

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