ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.899C>T (p.Ala300Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214681 SCV001386376 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2019-07-11 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 300 of the YARS protein (p.Ala300Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Charcot-Marie-Tooth disease (Invitae). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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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