ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) (rs753083306)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554037 SCV000655642 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2017-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg184*) in the MARS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs753083306, ExAC 0.01%). This variant has not been reported in the literature in individuals with a MARS-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MARS cause disease. In summary, this variant has uncertain impact on MARS function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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