ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003358438 SCV004051493 pathogenic Hereditary cancer-predisposing syndrome 2023-07-28 criteria provided, single submitter clinical testing The p.W505* pathogenic mutation (also known as c.1515G>A), located in coding exon 6 of the BLM gene, results from a G to A substitution at nucleotide position 1515. This changes the amino acid from a tryptophan to a stop codon within coding exon 6. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV003475569 SCV004210877 likely pathogenic Bloom syndrome 2023-07-02 criteria provided, single submitter clinical testing

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