ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.11T>A (p.Val4Asp)

dbSNP: rs144706057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968253 SCV002239224 uncertain significance Bloom syndrome 2024-12-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 4 of the BLM protein (p.Val4Asp). This variant is present in population databases (rs144706057, gnomAD 0.01%). 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: 1462030). 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 disruptive. 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 RCV004044456 SCV005021823 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-27 criteria provided, single submitter clinical testing The p.V4D variant (also known as c.11T>A), located in coding exon 1 of the BLM gene, results from a T to A substitution at nucleotide position 11. The valine at codon 4 is replaced by aspartic acid, an amino acid with highly dissimilar 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.

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