ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)

gnomAD frequency: 0.00052  dbSNP: rs139661803
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535214 SCV000655649 benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2024-01-22 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173661 SCV001336763 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV004024328 SCV002755142 likely benign not specified 2019-10-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003915635 SCV004734283 benign MARS1-related disorder 2019-05-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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