ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.747G>A (p.Pro249=)

gnomAD frequency: 0.00004  dbSNP: rs200490364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513080 SCV000608653 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000557196 SCV000655645 likely benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023460 SCV002755163 likely benign not specified 2019-07-11 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.

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