Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175593 | SCV001339238 | uncertain significance | not specified | 2020-10-01 | criteria provided, single submitter | clinical testing | Variant summary: SOS1 c.2990T>C (p.Met997Thr) results in a non-conservative amino acid change located in the Ras guanine-nucleotide exchange factors catalytic domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250344 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2990T>C in individuals affected with Noonan Syndrome And Related Conditions and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Labcorp Genetics |
RCV001364823 | SCV001561005 | likely benign | RASopathy | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002245865 | SCV002512473 | uncertain significance | Noonan syndrome 4 | 2021-11-16 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 moderate, BP4 supporting |
Genome- |
RCV002245865 | SCV002763253 | uncertain significance | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002468183 | SCV002763254 | uncertain significance | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |