ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1490G>A (p.Arg497Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003049179 SCV003338484 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-03-24 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 497 of the MARS protein (p.Arg497Gln). This variant is present in population databases (rs773985407, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 2121474). 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.
CeGaT Center for Human Genetics Tuebingen RCV004546756 SCV005041924 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing MARS1: PM2, PP3

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