Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175117 | SCV000226549 | uncertain significance | not provided | 2014-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019271 | SCV001180603 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-04 | criteria provided, single submitter | clinical testing | The p.D1071Y variant (also known as c.3211G>T) is located in coding exon 16 of the BLM gene. The aspartic acid at codon 1071 is replaced by tyrosine, an amino acid with highly dissimilar properties. This change occurs in the first base pair of coding exon 16. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001852140 | SCV002289656 | uncertain significance | Bloom syndrome | 2022-11-08 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 194690). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is present in population databases (rs794727180, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1071 of the BLM protein (p.Asp1071Tyr). |