ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.76A>T (p.Asn26Tyr)

dbSNP: rs794727277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175794 SCV000227351 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000175794 SCV002757605 uncertain significance not provided 2022-11-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published in patients as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33226070, 31117243)
Labcorp Genetics (formerly Invitae), Labcorp RCV005089882 SCV005733264 uncertain significance RASopathy 2024-09-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 26 of the KRAS protein (p.Asn26Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KRAS-related conditions. ClinVar contains an entry for this variant (Variation ID: 195235). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt KRAS protein function with a positive predictive value of 95%. 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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