Submissions for variant NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)

gnomAD frequency: 0.00164  dbSNP: rs8192671

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen RASopathy Variant Curation Expert Panel	RCV000128186	SCV000616440	benign	RASopathy	2017-04-03	reviewed by expert panel	curation	The filtering allele frequency of the c.3032A>G (p.Asn1011Ser) variant in the SOS1 gene is 0.26% for European (Non-Finnish) chromosomes by the Exome Aggregation Consortium (197/66620 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038545	SCV000062223	benign	not specified	2008-02-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000038545	SCV000171778	benign	not specified	2013-05-20	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573416	SCV000206721	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000038545	SCV000226931	benign	not specified	2014-10-20	criteria provided, single submitter	clinical testing
Invitae	RCV000128186	SCV000288964	likely benign	RASopathy	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038545	SCV000311200	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001143050	SCV001303547	likely benign	Noonan syndrome 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001143051	SCV001303548	likely benign	Fibromatosis, gingival, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813300	SCV002060651	benign	Noonan syndrome and Noonan-related syndrome	2021-03-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433488	SCV002753146	benign	Cardiovascular phenotype	2019-01-31	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics	RCV002490451	SCV002803659	likely benign	Fibromatosis, gingival, 1; Noonan syndrome 4	2021-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573416	SCV003916092	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SOS1: BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573416	SCV001799272	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038545	SCV001924596	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573416	SCV001930448	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573416	SCV001969897	likely benign	not provided		no assertion criteria provided	clinical testing