ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)

dbSNP: rs775383361
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731863 SCV000859719 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001370031 SCV001566492 uncertain significance Bloom syndrome 2024-06-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1080 of the BLM protein (p.Asp1080Val). This variant is present in population databases (rs775383361, gnomAD 0.0009%). 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: 596136). 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 RCV002325449 SCV002610328 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-25 criteria provided, single submitter clinical testing The p.D1080V variant (also known as c.3239A>T), located in coding exon 16 of the BLM gene, results from an A to T substitution at nucleotide position 3239. The aspartic acid at codon 1080 is replaced by valine, an amino acid with highly dissimilar 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. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001370031 SCV002090532 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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