ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811670 SCV000951948 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 649 of the MARS protein (p.Asn649Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is present in population databases (rs748955220, ExAC 0.02%). This variant has not been reported in the literature in individuals with MARS-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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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