ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) (rs773658296)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236551 SCV000293904 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing The R3060C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 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 R3060C 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. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with DYNC1H1-related disorders (Stenson et al., 2014).
Illumina Clinical Services Laboratory,Illumina RCV000378924 SCV000385128 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286830 SCV000385129 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334799 SCV000385130 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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