Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000665331 | SCV000789435 | likely pathogenic | Bloom syndrome | 2017-01-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001020451 | SCV001181935 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing | The c.3499delG pathogenic mutation, located in coding exon 17 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 3499, causing a translational frameshift with a predicted alternate stop codon (p.A1167Rfs*5). 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. |
| Invitae | RCV000665331 | SCV001585508 | pathogenic | Bloom syndrome | 2020-10-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 550553). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala1167Argfs*5) in the BLM gene. It is expected to result in an absent or disrupted protein product. |