ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)

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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 RCV002456953 SCV002614474 pathogenic Hereditary cancer-predisposing syndrome 2021-04-16 criteria provided, single submitter clinical testing The c.3421delAinsTTTTT pathogenic mutation, located in coding exon 17 of the BLM gene, results from the deletion of one nucleotide and insertion of 5 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.N1141Ffs*8). 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 RCV003475340 SCV004210919 likely pathogenic Bloom syndrome 2024-03-21 criteria provided, single submitter clinical testing

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