ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu) (rs1131691955)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492926 SCV000583222 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The P1350L variant in the DYNC1H1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P1350L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P1350L 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P1350L as a variant of uncertain significance.
Invitae RCV000649565 SCV000771394 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-02-07 criteria provided, single submitter clinical testing

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