ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1448G>A (p.Arg483His)

gnomAD frequency: 0.00004  dbSNP: rs779123068
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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 RCV001173436 SCV001336524 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001323573 SCV001514495 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-04-28 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 917036). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 23729695). This variant is present in population databases (rs779123068, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 483 of the MARS protein (p.Arg483His).

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