ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser) (rs1060502206)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456898 SCV000548837 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2018-10-23 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1027 of the DYNC1H1 protein (p.Pro1027Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DYNC1H1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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