ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)

dbSNP: rs2048126921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047133 SCV001211070 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2020-02-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DYNC1H1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1428 of the DYNC1H1 protein (p.Glu1428Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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