ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1812G>A (p.Gly604=)

gnomAD frequency: 0.00083  dbSNP: rs117633211
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086598 SCV000655628 benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2024-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811068 SCV000884094 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174284 SCV001337414 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV004024319 SCV002755162 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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