Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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. |
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. |
Gene |
RCV001561950 | SCV001784642 | likely benign | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000523770 | SCV002213244 | likely benign | RASopathy | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438250 | SCV002747472 | likely benign | Cardiovascular phenotype | 2019-12-05 | 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. |
Service de Génétique Moléculaire, |
RCV000761049 | SCV001438471 | uncertain significance | Noonan syndrome | no assertion criteria provided | clinical testing |