Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000800455 | SCV000940170 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2022-02-19 | 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: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 646217). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 156 of the SMARCA4 protein (p.Gly156Cys). |
| Ambry Genetics | RCV002336600 | SCV002636196 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-05-21 | criteria provided, single submitter | clinical testing | The p.G156C variant (also known as c.466G>T), located in coding exon 3 of the SMARCA4 gene, results from a G to T substitution at nucleotide position 466. The glycine at codon 156 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |