ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) (rs779548081)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652562 SCV000774432 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2017-12-15 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 889 of the MARS protein (p.Lys889Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs779548081, ExAC 0.002%). This variant has not been reported in the literature in individuals with MARS-related disease. 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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