ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.566G>A (p.Gly189Asp)

gnomAD frequency: 0.00001  dbSNP: rs754306004
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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 RCV000698739 SCV000827421 uncertain significance Bloom syndrome 2025-01-26 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 189 of the BLM protein (p.Gly189Asp). This variant is present in population databases (rs754306004, 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: 576276). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002343507 SCV002653220 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-09 criteria provided, single submitter clinical testing The p.G189D variant (also known as c.566G>A), located in coding exon 2 of the BLM gene, results from a G to A substitution at nucleotide position 566. The glycine at codon 189 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is poorly 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.
Natera, Inc. RCV000698739 SCV002089949 uncertain significance Bloom syndrome 2017-08-23 no assertion criteria provided clinical testing

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