ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.1074+5G>C (rs145155424)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000157008 SCV000206734 benign Noonan syndrome 2013-11-18 no assertion criteria provided clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224268 SCV000280994 likely benign not provided 2016-04-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ClinGen RASopathy Variant Curation Expert Panel RCV000128195 SCV000616521 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1074+5G>C variant in the SOS1 gene is 1.551% (837/50942) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038508 SCV000113236 benign not specified 2013-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000038508 SCV000171787 benign not specified 2011-12-19 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.
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center RCV000038508 SCV000207692 benign not specified 2015-01-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000157008 SCV000430439 likely benign Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296571 SCV000430440 likely benign Gingival fibromatosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000128195 SCV000261490 benign Rasopathy 2017-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038508 SCV000062186 benign not specified 2011-03-25 criteria provided, single submitter clinical testing 1074+5G>C in intron 8 of SOS1: This variant has not been previously reported in the literature. However, this variant has been identified in 12/1154 (1%) of individual's tested by our laboratory, two of whom have a pathogenic variant in PTPN11. In addition, this variant is located in the 5' splice region but does not affect the highly conserved +1 and +2 positions. However, positions +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. This type of variant has not been previously reported as pathogenic in SOS1. Therefore, this variant is likely to be benign.
PreventionGenetics RCV000038508 SCV000311181 benign not specified 2010-07-01 criteria provided, single submitter clinical testing

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