ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.640_643AAGA[1] (p.Lys215fs) (rs766063111)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610242 SCV000714093 likely benign not specified 2017-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000655067 SCV000776992 uncertain significance Noonan syndrome 8 2018-11-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RIT1 gene (p.Lys215Ilefs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acids of the RIT1 protein. This variant is present in population databases (rs766063111, ExAC 0.03%). This variant has not been reported in the literature in individuals with RIT1-related 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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