ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2219A>G (p.Asp740Gly)

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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 RCV004600393 SCV005101932 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-18 criteria provided, single submitter clinical testing The p.D740G variant (also known as c.2219A>G), located in coding exon 9 of the BLM gene, results from an A to G substitution at nucleotide position 2219. The aspartic acid at codon 740 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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