ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr)

gnomAD frequency: 0.00001  dbSNP: rs794727180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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).

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