ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047378 SCV001211331 pathogenic Charcot-Marie-Tooth disease, axonal, type 2O 2020-06-06 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 560 of the DYNC1H1 protein (p.Val560Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). In at least one individual the variant was observed to be de novo. 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: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.

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