ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.269T>C (p.Phe90Ser)

gnomAD frequency: 0.00001  dbSNP: rs1589792507
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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 RCV001307584 SCV001497002 uncertain significance Costello syndrome 2020-01-08 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 (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 variant has not been reported in the literature in individuals with HRAS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 90 of the HRAS protein (p.Phe90Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.
GeneDx RCV004779049 SCV005392539 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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