ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) (rs869025194)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226825 SCV000289598 uncertain significance Noonan syndrome 8 2016-03-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 82 of the RIT1 protein (p.Phe82Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Noonan syndrome (PMID: 26757980). Several different missense substitutions at this codon (p.Phe82Val, p.Phe83Leu) have been reported to be deleterious (PMID: 23791108, 24939608, 26757980). This indicates that the phenylalanine residue is likely important for RIT1 protein function. In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000207338 SCV000211880 pathogenic Noonan syndrome no assertion criteria provided clinical testing

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