ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2233G>A (p.Glu745Lys)

dbSNP: rs1596235872
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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 RCV001014892 SCV001175660 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing The p.E745K variant (also known as c.2233G>A), located in coding exon 9 of the BLM gene, results from a G to A substitution at nucleotide position 2233. The glutamic acid at codon 745 is replaced by lysine, an amino acid with similar properties. This amino acid position is 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.

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