ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.490G>C (p.Glu164Gln)

dbSNP: rs1052258023
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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 RCV001023252 SCV001185101 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-14 criteria provided, single submitter clinical testing The p.E164Q variant (also known as c.490G>C), located in coding exon 2 of the BLM gene, results from a G to C substitution at nucleotide position 490. The glutamic acid at codon 164 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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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