ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn)

dbSNP: rs771767745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228367 SCV000283133 uncertain significance Bloom syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1080 of the BLM protein (p.Asp1080Asn). This variant is present in population databases (rs771767745, gnomAD 0.007%). 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: 236812). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV001019350 SCV001180697 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter clinical testing The p.D1080N variant (also known as c.3238G>A), located in coding exon 16 of the BLM gene, results from a G to A substitution at nucleotide position 3238. The aspartic acid at codon 1080 is replaced by asparagine, an amino acid with highly similar properties. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237782 SCV002010754 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000228367 SCV002090531 uncertain significance Bloom syndrome 2018-06-19 no assertion criteria provided clinical testing

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