ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: 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 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2021-06-17 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with MARS-related disease. This variant is present in population databases (rs779548081, ExAC 0.002%). 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.

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