ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.695T>G (p.Ile232Ser) (rs1553123310)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555727 SCV000639560 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2017-06-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with serine at codon 232 of the YARS protein (p.Ile232Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a YARS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant 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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