ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2494A>T (p.Thr832Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002430984 SCV002742274 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-29 criteria provided, single submitter clinical testing The p.T832S variant (also known as c.2494A>T), located in coding exon 11 of the BLM gene, results from an A to T substitution at nucleotide position 2494. The threonine at codon 832 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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