ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798585 SCV000938208 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2018-08-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 3657 of the DYNC1H1 protein (p.Gly3657Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs761427653, ExAC 0.006%). This variant has not been reported in the literature in individuals with 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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