ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201522 SCV001372596 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2019-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val33*) in the MARS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773474721, ExAC 0.009%). 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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