ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2123G>A (p.Gly708Glu)

dbSNP: rs763559820
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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 RCV000811168 SCV000951421 uncertain significance Bloom syndrome 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 708 of the BLM protein (p.Gly708Glu). This variant is present in population databases (rs763559820, 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: 655066). 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 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 RCV002422787 SCV002726462 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-29 criteria provided, single submitter clinical testing The p.G708E variant (also known as c.2123G>A), located in coding exon 8 of the BLM gene, results from a G to A substitution at nucleotide position 2123. The glycine at codon 708 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000811168 SCV002088034 uncertain significance Bloom syndrome 2018-09-30 no assertion criteria provided clinical testing

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