ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.716A>G (p.Asp239Gly)

gnomAD frequency: 0.00001  dbSNP: rs751699247
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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 RCV000234230 SCV000283155 uncertain significance Bloom syndrome 2024-09-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 239 of the BLM protein (p.Asp239Gly). This variant is present in population databases (rs751699247, 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: 236825). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (internal data). 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 RCV002372243 SCV002662788 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-04 criteria provided, single submitter clinical testing The p.D239G variant (also known as c.716A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 716. The aspartic acid at codon 239 is replaced by glycine, an amino acid with similar 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000234230 SCV002089965 uncertain significance Bloom syndrome 2018-09-13 no assertion criteria provided clinical testing

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