ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)

dbSNP: rs1453467370
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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 RCV003092192 SCV003481219 uncertain significance Noonan syndrome 8 2022-04-25 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RIT1 protein function. This variant has not been reported in the literature in individuals affected with RIT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 184 of the RIT1 protein (p.Arg184Gly).
PreventionGenetics, part of Exact Sciences RCV003906500 SCV004718097 uncertain significance RIT1-related disorder 2024-05-14 no assertion criteria provided clinical testing The RIT1 c.601A>G variant is predicted to result in the amino acid substitution p.Arg201Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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