ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) (rs746244182)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409376 SCV000486590 likely pathogenic Bloom syndrome 2016-06-28 criteria provided, single submitter clinical testing
Invitae RCV000409376 SCV000749523 pathogenic Bloom syndrome 2019-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr494Profs*9) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs746244182, ExAC 0.002%). This variant has not been reported in the literature in individuals with BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 371108). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001011718 SCV001172073 pathogenic Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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