Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001375587 | SCV001572485 | uncertain significance | not specified | 2021-04-15 | criteria provided, single submitter | clinical testing | Variant summary: SOS1 c.1391T>C (p.Phe464Ser) results in a non-conservative amino acid change located in the Pleckstrin homology domain (IPR001849) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251106 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.1391T>C in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Service de Génétique Moléculaire, |
RCV001261080 | SCV001438482 | uncertain significance | Noonan syndrome | no assertion criteria provided | clinical testing |