ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.887+17G>A

dbSNP: rs201259473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437163 SCV000535354 likely benign not specified 2016-12-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173658 SCV001336760 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002230080 SCV002509799 likely benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2024-01-25 criteria provided, single submitter clinical testing

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