ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr)

dbSNP: rs869025190
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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 RCV001211033 SCV001382554 uncertain significance Noonan syndrome 8 2019-07-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces aspartic acid with tyrosine at codon 51 of the RIT1 protein (p.Asp51Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features of Noonan syndrome (PMID: 26757980, 27226556). ClinVar contains an entry for this variant (Variation ID: 183402). 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.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000207344 SCV000211875 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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