ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.499C>A (p.Pro167Thr) (rs1279417718)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819906 SCV000960593 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 167 of the YARS protein (p.Pro167Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with 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 and their clinical significance is uncertain. 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000993967 SCV001147220 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing

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