ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.661A>T (p.Thr221Ser)

dbSNP: rs1895631812
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038087 SCV001201534 uncertain significance Bloom syndrome 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 221 of the BLM protein (p.Thr221Ser). 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: 836869). 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.
Ambry Genetics RCV002372757 SCV002667738 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-20 criteria provided, single submitter clinical testing The p.T221S variant (also known as c.661A>T), located in coding exon 2 of the BLM gene, results from an A to T substitution at nucleotide position 661. The threonine at codon 221 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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. RCV001038087 SCV002089959 uncertain significance Bloom syndrome 2020-03-20 no assertion criteria provided clinical testing

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