ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2078G>A (p.Gly693Asp)

gnomAD frequency: 0.00002  dbSNP: rs771864442
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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 RCV001313171 SCV001503653 uncertain significance Bloom syndrome 2024-05-28 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 693 of the BLM protein (p.Gly693Asp). This variant is present in population databases (rs771864442, gnomAD 0.002%). 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: 1014439). 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 RCV002418946 SCV002727753 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-19 criteria provided, single submitter clinical testing The p.G693D variant (also known as c.2078G>A), located in coding exon 8 of the BLM gene, results from a G to A substitution at nucleotide position 2078. The glycine at codon 693 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001313171 SCV002088027 uncertain significance Bloom syndrome 2021-02-22 no assertion criteria provided clinical testing

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