Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217384 | SCV000272446 | uncertain significance | not specified | 2016-01-07 | criteria provided, single submitter | clinical testing | The p.Asn522His variant in SOS1 has not been previously reported in individuals with a RASopathy disorder, but has been identified in 3/66294 of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs761094509). Computational prediction tools and conservation analysis su ggest that this variant may impact the protein, though this information is not p redictive enough to determine pathogenicity. In summary, the clinical significan ce of the p.Asn522His variant is uncertain |
Fulgent Genetics, |
RCV000764406 | SCV000895463 | uncertain significance | Fibromatosis, gingival, 1; Noonan syndrome 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001365177 | SCV001561435 | uncertain significance | RASopathy | 2020-05-27 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SOS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 229262). This variant is present in population databases (rs761094509, ExAC 0.005%). This sequence change replaces asparagine with histidine at codon 522 of the SOS1 protein (p.Asn522His). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and histidine. |
Genome- |
RCV002467685 | SCV002763403 | uncertain significance | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467684 | SCV002763404 | uncertain significance | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |