ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.877G>A (p.Val293Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208778 SCV001380184 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2019-07-15 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 293 of the YARS protein (p.Val293Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs746614278, ExAC 0.006%). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 27027447). This variant has been reported not to substantially affect YARS protein function (PMID: 27027447). 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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