ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065472 SCV001230430 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2019-11-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 574 of the DNM2 protein (p.Asp574Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNM2-related conditions. 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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