ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys) (rs142883042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235280 SCV000292929 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing The E4439K variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The E4439K 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 mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the E4439K variant is damaging to the protein structure/function. Additionally, other missense mutations in nearby residues have not been reported in the Human Gene Mutation Database (Stenson et al., 2014). Based on the currently available information, it is unclear whether the E4439K variant is a pathogenic variant or a rare benign variant.
Invitae RCV000531912 SCV000651616 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-11-06 criteria provided, single submitter clinical testing

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