Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000467746 | SCV000543351 | pathogenic | Bloom syndrome | 2023-08-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 405291). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn782Argfs*34) 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). |
| Counsyl | RCV000467746 | SCV000792094 | likely pathogenic | Bloom syndrome | 2017-06-20 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000467746 | SCV002813884 | likely pathogenic | Bloom syndrome | 2022-02-08 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003298468 | SCV004001025 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-13 | criteria provided, single submitter | clinical testing | The c.2343_2344dupGA pathogenic mutation, located in coding exon 10 of the BLM gene, results from a duplication of GA at nucleotide position 2343, causing a translational frameshift with a predicted alternate stop codon (p.N782Rfs*34). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |