ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.280A>G (p.Ile94Val) (rs144757941)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000523770 SCV000616526 likely benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.280A>G (p.Ile94Val) variant in the SOS1 gene is 0.0253% (6/10300) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761049 SCV000890964 likely benign Noonan syndrome 2020-09-22 criteria provided, single submitter clinical testing The c.280A>G missense variant has a frequency of 0.0005213 (13 of 24,938 alleles) in the African subpopulation in gnomAD v2.1.1 (http://gnomad.broadinstitute.org). This is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel for autosomal dominant RASopathy variants (BS1). In silico tools are not in agreement regarding the effect of this variant on protein function and functional assays have not been performed. This variant has been classified as likely benign by the ClinGen RASopathy Variant Curation Expert Panel (SCV000616526.3). In summary, this variant meets criteria to be classified as likely benign based on the ACMG/AMP criteria, as specified by the ClinGen RASopathy Variant Curation Expert Panel (PMID:29493581): BS1.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000761049 SCV001438471 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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