Total submissions: 3
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 | 2019-08-05 | criteria provided, single submitter | clinical testing | 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. This variant is present in population databases (rs754203833, ExAC 0.01%). This variant has not been reported in the literature in individuals with BLM-related disease. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV001010863 | SCV001171117 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-28 | 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. |