ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.457G>T (p.Asp153Tyr)

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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 RCV004600360 SCV005100159 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-04 criteria provided, single submitter clinical testing The p.D153Y variant (also known as c.457G>T), located in coding exon 2 of the BLM gene, results from a G to T substitution at nucleotide position 457. The aspartic acid at codon 153 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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