Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002022299 | SCV002258577 | uncertain significance | Bloom syndrome | 2021-04-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BLM-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 601 of the BLM protein (p.Ser601Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. |
| Ambry Genetics | RCV004042447 | SCV005022211 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-02 | criteria provided, single submitter | clinical testing | The p.S601C variant (also known as c.1802C>G), located in coding exon 6 of the BLM gene, results from a C to G substitution at nucleotide position 1802. The serine at codon 601 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |