ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) (rs754437318)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465263 SCV000548841 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2016-10-17 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 4162 of the DYNC1H1 protein (p.Ser4162Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs754437318, ExAC 0.002%) but 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 rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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