ClinVar Miner

Submissions for variant NM_033360.4(KRAS):c.93A>G (p.Glu31=)

gnomAD frequency: 0.00004  dbSNP: rs377354475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175793 SCV000227350 uncertain significance not provided 2015-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000175793 SCV001869422 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852156 SCV002136306 likely benign RASopathy 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372087 SCV002688755 likely benign Cardiovascular phenotype 2022-08-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004552976 SCV004708822 likely benign KRAS-related disorder 2019-06-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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