ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr) (rs144147463)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533146 SCV000651653 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2017-02-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1765 of the DYNC1H1 protein (p.Ala1765Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs144147463, ExAC 0.008%) 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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