ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.837A>T (p.Glu279Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003300836 SCV003999919 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing The p.E279D variant (also known as c.837A>T), located in coding exon 3 of the BLM gene, results from an A to T substitution at nucleotide position 837. The glutamic acid at codon 279 is replaced by aspartic acid, an amino acid with highly 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.
GeneDx RCV004779533 SCV005391166 uncertain significance not provided 2024-04-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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