ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288304 SCV002579776 likely pathogenic Bloom syndrome 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352971 SCV002619880 pathogenic Hereditary cancer-predisposing syndrome 2020-03-18 criteria provided, single submitter clinical testing The p.I1299* variant (also known as c.3891delA) is located in coding exon 20 (c.3875_4076) of the BLM gene. This alteration results in a deletion of A at 3891. This variant was not reported in population-based 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.

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