ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp)

dbSNP: rs375841213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527258 SCV000623311 uncertain significance Bloom syndrome 2024-12-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1129 of the BLM protein (p.Gly1129Asp). This variant is present in population databases (rs375841213, gnomAD 0.003%). 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: 454138). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BLM protein function with a positive 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 RCV004948388 SCV005541065 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-01 criteria provided, single submitter clinical testing The p.G1129D variant (also known as c.3386G>A), located in coding exon 17 of the BLM gene, results from a G to A substitution at nucleotide position 3386. The glycine at codon 1129 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000527258 SCV002090561 uncertain significance Bloom syndrome 2018-07-16 no assertion criteria provided clinical testing

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