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

dbSNP: rs121913233

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000157918	SCV000207853	likely pathogenic	not provided	2024-04-05	criteria provided, single submitter	clinical testing	Identified in POC with non-immune hydrops fetalis in published literature (PMID: 35397126); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; This variant is associated with the following publications: (PMID: 25883647, 27635947, 24224811, 29493581, 32434131, 35397126)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813393	SCV002060817	likely pathogenic	Noonan syndrome and Noonan-related syndrome	2021-06-25	criteria provided, single submitter	clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796045	SCV005416048	likely pathogenic	Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2		criteria provided, single submitter	clinical testing	PM2_Supporting+PP3_Moderate+PM5_Supporting+PS2_Supporting+PS4_Supporting
OMIM	RCV000148033	SCV000195535	pathogenic	Linear nevus sebaceous syndrome	2014-01-15	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
Department of Medical Oncology, City of Hope	RCV001844808	SCV002104179	pathogenic	Salivary gland neoplasm		no assertion criteria provided	clinical testing