ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3028del (p.Asp1010fs) (rs780379121)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574982 SCV000672986 pathogenic Hereditary cancer-predisposing syndrome 2017-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000169440 SCV000220857 likely pathogenic Bloom syndrome 2014-11-06 criteria provided, single submitter literature only
Invitae RCV000169440 SCV000623297 pathogenic Bloom syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp1010Metfs*24) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs780379121, ExAC 0.003%). This variant has been reported in individuals affected with Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 189048). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.

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