Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243070 | SCV001416203 | pathogenic | Bloom syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1246Glnfs*10) in the BLM gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV003294138 | SCV004001017 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-06-05 | criteria provided, single submitter | clinical testing | The c.3737_3738delTC pathogenic mutation, located in coding exon 18 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 3737 to 3738, causing a translational frameshift with a predicted alternate stop codon (p.L1246Qfs*10). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |