ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.880G>A (p.Asp294Asn)

dbSNP: rs1596221148
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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 RCV001018373 SCV001179603 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-14 criteria provided, single submitter clinical testing The p.D294N variant (also known as c.880G>A), located in coding exon 3 of the BLM gene, results from a G to A substitution at nucleotide position 880. The aspartic acid at codon 294 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, asparagine is the reference amino acid in other 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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