ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter)

dbSNP: rs1897212605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent, University of Ghent RCV001256003 SCV001432257 pathogenic Bloom syndrome 2020-09-15 criteria provided, single submitter research This nonsense variant c.3379C>T, p.(Gln1127Ter) in exon 18 of the BLM gene was found in trans with a deep intronic variant c.3020-258A>G in intron 15 in a patient with a clinical phenotype of Bloom Syndrome and a strong increase in sister chromatid exchanges (SCE). This variant introduces a premature stop codon in to the reading frame and abolishes BLM protein expression, confirmed by Western Blot analysis.
Labcorp Genetics (formerly Invitae), Labcorp RCV001256003 SCV003462327 pathogenic Bloom syndrome 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 978066). This premature translational stop signal has been observed in individual(s) with Bloom syndrome (PMID: 30214071, 33073370). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1127*) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155).

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