ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup)

dbSNP: rs768095141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572305 SCV000672988 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-03 criteria provided, single submitter clinical testing The c.1695_1697dupTGA variant (also known as p.D566dup), located in coding exon 6 of the BLM gene, results from an in-frame duplication of TGA at nucleotide positions 1695 to 1697. This results in the duplication of an extra aspartic acid residue at codon 566. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000698922 SCV000827613 uncertain significance Bloom syndrome 2023-10-23 criteria provided, single submitter clinical testing This variant, c.1695_1697dup, results in the insertion of 1 amino acid(s) of the BLM protein (p.Asp566dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776238917, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 485352). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Natera, Inc. RCV000698922 SCV001461821 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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