ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.311C>A (p.Ser104Ter)

dbSNP: rs367543030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002238626 SCV002511769 pathogenic Bloom syndrome 2022-04-05 criteria provided, single submitter clinical testing Variant summary: BLM c.311C>A (p.Ser104X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251244 control chromosomes. c.311C>A has been reported in the literature in an individual affected with Bloom Syndrome in the Bloom Syndrome Registry (example, German_2007). These data do not allow any conclusion about variant significance. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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