Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000461204 | SCV001192878 | likely benign | RASopathy | 2019-11-04 | reviewed by expert panel | curation | The c.39A>G (p.Glu13Glu) variant in SOS1 is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing (BP4, BP7). It has been identified in 0.004165% (5/120058) of non-Finnish European chromosomes in gnomAD (BS1 not met; https://gnomad.broadinstitute.org). This variant was observed in several individuals with varying clinical presentations that lacked clear associations with a RASopathy. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied: BP4, BP7. |
Eurofins Ntd Llc |
RCV000361364 | SCV000334132 | uncertain significance | not provided | 2015-08-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000461204 | SCV000563109 | likely benign | RASopathy | 2022-11-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813445 | SCV002060909 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374457 | SCV002625049 | likely benign | Cardiovascular phenotype | 2019-07-07 | 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. |
Ce |
RCV000361364 | SCV004145982 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SOS1: BP4, BP7 |