ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.1180G>A (p.Val394Met) (rs863224717)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195932 SCV000254789 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2015-08-12 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 394 of the YARS protein (p.Val394Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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