ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser)

gnomAD frequency: 0.00002  dbSNP: rs757213444
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000523182 SCV000616517 benign RASopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1772A>G (p.Asn591Ser) variant in the SOS1 gene is 0.054% (11/11524) of Latino 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)
Labcorp Genetics (formerly Invitae), Labcorp RCV000523182 SCV000659132 likely benign RASopathy 2023-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000606527 SCV000713844 benign not specified 2018-01-19 criteria provided, single submitter clinical testing p.Asn591Ser in exon 10 of SOS1: This variant has been classified as benign by a ClinGen-approved expert panel (ClinVar ID:448943). It is not expected to have cl inical significance because it has been identified in 0.09% (32/34374) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinst itute.org/; dbSNP rs757213444). ACMG/AMP Criteria applied: BA1; BP4.
GeneDx RCV000606527 SCV000714997 benign not specified 2017-07-05 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.
Ambry Genetics RCV002404338 SCV002711852 likely benign Cardiovascular phenotype 2023-09-26 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.
PreventionGenetics, part of Exact Sciences RCV003925552 SCV004743057 likely benign SOS1-related disorder 2023-05-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.