Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001998426 | SCV002264097 | uncertain significance | Bloom syndrome | 2021-02-17 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change creates a premature translational stop signal (p.Lys1411*) in the BLM gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the BLM protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BLM-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |
| Ambry Genetics | RCV002331558 | SCV002632805 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-03 | criteria provided, single submitter | clinical testing | The p.K1411* variant (also known as c.4231A>T), located in coding exon 21 of the BLM gene, results from an A to T substitution at nucleotide position 4231. This changes the amino acid from a lysine to a stop codon within coding exon 21. This alteration occurs at the 3' terminus of theBLM gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 7 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |