ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys) (rs797045535)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192412 SCV000247223 likely benign not specified 2016-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000236144 SCV000292890 likely pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing The E2640K variant in the DYNC1H1 gene has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. The E2640K variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E2640K 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 across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The E2640K variant is a strong candidate for a disease-causing variant
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660532 SCV000782635 uncertain significance Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 2017-03-23 criteria provided, single submitter clinical testing

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