Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671593 | SCV000796581 | likely pathogenic | Bloom syndrome | 2017-12-19 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000671593 | SCV000824659 | pathogenic | Bloom syndrome | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555723). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This sequence change creates a premature translational stop signal (p.Ser434*) 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). |
| Ambry Genetics | RCV001010863 | SCV001171117 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-08 | criteria provided, single submitter | clinical testing | The p.S434* pathogenic mutation (also known as c.1301C>G), located in coding exon 6 of the BLM gene, results from a C to G substitution at nucleotide position 1301. This changes the amino acid from a serine to a stop codon within coding exon 6. 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. |
| Revvity Omics, |
RCV000671593 | SCV002016593 | pathogenic | Bloom syndrome | 2019-03-05 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002508246 | SCV002817901 | pathogenic | not provided | 2022-06-29 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published in an individual with BLM-related Bloom syndrome as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20719863, 29625052, 29478780) |
| Baylor Genetics | RCV000671593 | SCV004210865 | likely pathogenic | Bloom syndrome | 2023-08-17 | criteria provided, single submitter | clinical testing |