ClinVar Miner

Submissions for variant NM_001605.2(AARS1):c.783C>G (p.Asp261Glu) (rs1374950172)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699191 SCV000827891 uncertain significance Charcot-Marie-Tooth disease, type 2 2018-03-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 261 of the AARS protein (p.Asp261Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AARS-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV000999721 SCV001156508 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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