ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)

gnomAD frequency: 0.00001  dbSNP: rs896071517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824130 SCV000965014 uncertain significance Noonan syndrome 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys143*) in the RRAS gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RRAS cause disease. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with RRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 665777). 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.

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