Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000409376 | SCV000486590 | likely pathogenic | Bloom syndrome | 2016-06-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000409376 | SCV000749523 | pathogenic | Bloom syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr494Profs*9) 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 (rs746244182, gnomAD 0.002%). 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: 371108). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV001011718 | SCV001172073 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-07 | criteria provided, single submitter | clinical testing | The c.1479_1480delTA pathogenic mutation, located in coding exon 6 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 1479 to 1480, causing a translational frameshift with a predicted alternate stop codon (p.T494Pfs*9). 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. |
| DASA | RCV000409376 | SCV002107145 | pathogenic | Bloom syndrome | 2022-03-05 | criteria provided, single submitter | clinical testing | The c.1479_1480del;p.(Thr494Profs*9) is a null frameshift variant (NMD) in the BLM gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 371108). PS4_moderate. The variant is present at low allele frequencies population databases (rs746244182 – gnomAD 0.00007991%; ABraOM no frequency - http://abraom.ib.usp.br.) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic. |
| Baylor Genetics | RCV000409376 | SCV004210871 | pathogenic | Bloom syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000409376 | SCV001460783 | pathogenic | Bloom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |