ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.746T>G (p.Phe249Cys) (rs1009349245)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543963 SCV000639562 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2017-06-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 249 of the YARS protein (p.Phe249Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a YARS-related disease. In summary, this variant has uncertain impact on YARS function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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