Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001025562 | SCV001187770 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-02-28 | criteria provided, single submitter | clinical testing | The p.Q224* pathogenic mutation (also known as c.670C>T), located in coding exon 2 of the BLM gene, results from a C to T substitution at nucleotide position 670. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Labcorp Genetics |
RCV002550917 | SCV003276057 | pathogenic | Bloom syndrome | 2025-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln224*) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is present in population databases (no rsID available, 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: 826568). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV002550917 | SCV005058128 | likely pathogenic | Bloom syndrome | 2024-02-12 | criteria provided, single submitter | clinical testing |