ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.644_647del (p.Lys215fs)

dbSNP: rs766063111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722552 SCV000714093 likely benign not provided 2023-03-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000655067 SCV000776992 uncertain significance Noonan syndrome 8 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys215Ilefs*3) in the RIT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the RIT1 protein. This variant is present in population databases (rs766063111, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with RIT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 506383). 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.
Ambry Genetics RCV002368035 SCV002657441 likely benign Cardiovascular phenotype 2019-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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