Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652815 | SCV000774687 | likely benign | Noonan syndrome 9 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001805782 | SCV002051284 | likely benign | not specified | 2023-08-08 | criteria provided, single submitter | clinical testing | Variant summary: SOS2 c.3769A>G (p.Asn1257Asp) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00016 in 251484 control chromosomes (gnomAD). The observed variant frequency is approximately 63 fold of the estimated maximal expected allele frequency for a pathogenic variant in SOS2 causing Noonan Syndrome phenotype (2.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.3769A>G in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Genome- |
RCV000652815 | SCV002762976 | likely benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing | ||
Ce |
RCV003392500 | SCV004134074 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | SOS2: BP4 |
Prevention |
RCV003918081 | SCV004735446 | likely benign | SOS2-related condition | 2022-10-27 | criteria provided, single submitter | 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). |