ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.414+9G>C

gnomAD frequency: 0.00016  dbSNP: rs375026310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001503150 SCV001707999 likely benign Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2022-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925707 SCV004746563 likely benign MARS1-related condition 2019-05-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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