ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) (rs763378637)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV000999719 SCV001156506 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001049452 SCV001213501 uncertain significance Charcot-Marie-Tooth disease, type 2 2019-06-04 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 168 of the AARS protein (p.Pro168Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs763378637, ExAC 0.003%). This variant has been observed in an individual affected with inherited peripheral neuropathy (PMID: 27549087). 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.

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