ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) (rs121913233)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157918 SCV000207853 likely pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing The Q61R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). Q61R occurs at a highly conserved position within the Switch II domain (Wey et al. 2013) and in silico analysis predicts this variant is probably damaging to the protein structure/ function. It is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Missense variants in nearby residues (T581I, G60D, E63K) have been reported in the Human Gene Mutation Database in association with RASopathies (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
OMIM RCV000148033 SCV000195535 pathogenic Epidermal nevus syndrome 2014-01-15 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437086 SCV000504405 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418550 SCV000504406 pathogenic Neoplasm of the thyroid gland 2014-10-02 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV000662268 SCV000784596 likely pathogenic Vascular Tumors Including Pyogenic Granuloma 2015-02-19 no assertion criteria provided literature only

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