ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.261C>T (p.Thr87=)

dbSNP: rs1851272766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001415096 SCV001617245 likely benign Costello syndrome 2024-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456666 SCV002739660 likely benign Cardiovascular phenotype 2019-10-28 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.
GeneDx RCV004801008 SCV005421828 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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