ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1514dup (p.Pro506fs)

dbSNP: rs1877536163
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323585 SCV001514508 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2018-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro506Thrfs*6) in the MARS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MARS cause disease. This variant has not been reported in the literature in individuals with MARS-related disease.

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