ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3533G>A (p.Arg1178Gln)

dbSNP: rs1057524432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420819 SCV000535547 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing The R1178Q variant in the DYNC1H1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1178Q 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 R1178Q 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 R1178Q as a variant of uncertain significance
CeGaT Center for Human Genetics Tuebingen RCV000420819 SCV004130447 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing DYNC1H1: PM2, PP2, PP3

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