ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.368G>A (p.Arg123His)

gnomAD frequency: 0.00002  dbSNP: rs977405637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306970 SCV001496361 uncertain significance Noonan syndrome 8 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 123 of the RIT1 protein (p.Arg123His). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1009476). Invitae Evidence Modeling incorporating data from in vitro experimental studies (internal data) indicates that this missense variant is not expected to disrupt RIT1 function with a negative predictive value of 95%. 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.
GeneDx RCV001558902 SCV001780939 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing

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