ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.61C>T (p.Pro21Ser)

gnomAD frequency: 0.00001  dbSNP: rs1166281308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788980 SCV000928288 uncertain significance not provided 2019-03-20 criteria provided, single submitter clinical testing
Invitae RCV001352311 SCV001546858 uncertain significance Noonan syndrome 2022-06-13 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 636997). This variant has not been reported in the literature in individuals affected with RRAS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 21 of the RRAS protein (p.Pro21Ser).

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