ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1741A>G (p.Thr581Ala)

gnomAD frequency: 0.00001  dbSNP: rs587778108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689681 SCV000817344 uncertain significance Bloom syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 581 of the BLM protein (p.Thr581Ala). This variant is present in population databases (rs587778108, gnomAD 0.001%). 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: 133713). 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 RCV001012917 SCV001173437 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-05 criteria provided, single submitter clinical testing The p.T581A variant (also known as c.1741A>G), located in coding exon 6 of the BLM gene, results from an A to G substitution at nucleotide position 1741. The threonine at codon 581 is replaced by alanine, 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.
ITMI RCV000120246 SCV000084395 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000689681 SCV001461823 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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