ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp) (rs376054085)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687751 SCV000815337 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 367 of the YARS protein (p.Arg367Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs376054085, ExAC 0.03%). This variant has not been reported in the literature in individuals with YARS-related disease. ClinVar contains an entry for this variant (Variation ID: 567612). 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: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001264808 SCV001442999 pathogenic recessive ARS-related multisystem disease 2020-06-01 criteria provided, single submitter clinical testing PS1, PM2, PM3, PP1_Strong, PP3

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