ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.659del (p.Pro220fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217570 SCV001389416 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro220Leufs*25) in the MARS gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MARS-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MARS cause disease. 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.

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