ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.219C>T (p.Arg73=)

gnomAD frequency: 0.00001  dbSNP: rs749870259
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471546 SCV000560893 likely benign Costello syndrome 2023-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431368 SCV002730718 likely benign Cardiovascular phenotype 2021-12-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003392297 SCV004134986 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing HRAS: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003899987 SCV004709366 likely benign HRAS-related condition 2020-09-30 criteria provided, single submitter 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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