ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706443 SCV000835492 uncertain significance Noonan syndrome 2018-11-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RRAS gene (p.Ser158Phefs*77). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acids of the RRAS protein. This variant is present in population databases (rs760978291, ExAC 0.05%). This variant has not been reported in the literature in individuals with RRAS-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RRAS 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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