ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6260A>G (p.Asp2087Gly)

dbSNP: rs1555409850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521107 SCV000621899 likely pathogenic not provided 2017-10-30 criteria provided, single submitter clinical testing The D2087G variant in the DYNC1H1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D2087G variant is not observed in large population cohorts (Lek et al., 2016). The D2087G variant is a non-conservative amino acid substitution, which 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 D2087G as a likely pathogenic variant

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