ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3538G>A (p.Val1180Ile)

dbSNP: rs1324479116
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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 RCV001020553 SCV001182047 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-12 criteria provided, single submitter clinical testing The p.V1180I variant (also known as c.3538G>A), located in coding exon 17 of the BLM gene, results from a G to A substitution at nucleotide position 3538. The valine at codon 1180 is replaced by isoleucine, an amino acid with highly 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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