Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000460269 | SCV000543327 | uncertain significance | Bloom syndrome | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 269 of the BLM protein (p.Ser269Gly). This variant is present in population databases (rs141411463, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 405275). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Ambry Genetics | RCV001027122 | SCV001189628 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-22 | criteria provided, single submitter | clinical testing | The c.805A>G (p.S269G) alteration is located in exon 4 (coding exon 3) of the BLM gene. This alteration results from a A to G substitution at nucleotide position 805, causing the serine (S) at amino acid position 269 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000460269 | SCV002089974 | uncertain significance | Bloom syndrome | 2018-05-07 | no assertion criteria provided | clinical testing |