ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.437A>G (p.Asp146Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002333554 SCV002631149 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-01 criteria provided, single submitter clinical testing The p.D146G variant (also known as c.437A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 437. The aspartic acid at codon 146 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094667 SCV003031997 uncertain significance Bloom syndrome 2023-03-31 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 146 of the BLM protein (p.Asp146Gly). This variant is not present in population databases (gnomAD no frequency). 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: 1740135). 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. 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.

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