ClinVar Miner

Submissions for variant NC_000001.10:g.33256845G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001312709 SCV001503173 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate C 2020-03-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 201 of the YARS protein (p.Ala201Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. 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 conditions. 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: Not Available; PolyPhen-2: Benign; Align-GVGD: Not Available). 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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