ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3060C>T (p.Asn1020=)

gnomAD frequency: 0.00001  dbSNP: rs142431345
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216631 SCV000270859 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing p.Asn1020Asn in exon 19 of SOS1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/8624 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs142431345).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000216631 SCV001361401 likely benign not specified 2019-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459899 SCV001663755 likely benign RASopathy 2022-10-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813430 SCV002060652 likely benign Noonan syndrome and Noonan-related syndrome 2021-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444858 SCV002752968 likely benign Cardiovascular phenotype 2021-02-09 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.
Genome-Nilou Lab RCV002467679 SCV002763248 likely benign Noonan syndrome 4 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467678 SCV002763249 likely benign Fibromatosis, gingival, 1 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897474 SCV004715183 likely benign SOS1-related disorder 2022-06-22 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).

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