ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1677T>A (p.Asp559Glu)

gnomAD frequency: 0.00001  dbSNP: rs780794194
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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 RCV001212984 SCV001384597 uncertain significance Bloom syndrome 2022-03-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 559 of the BLM protein (p.Asp559Glu). This variant is present in population databases (rs780794194, 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: 942901). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV002402631 SCV002710964 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-27 criteria provided, single submitter clinical testing The p.D559E variant (also known as c.1677T>A), located in coding exon 6 of the BLM gene, results from a T to A substitution at nucleotide position 1677. The aspartic acid at codon 559 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly 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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