ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) (rs367543031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000034915 SCV000793460 likely pathogenic Bloom syndrome 2017-08-16 criteria provided, single submitter clinical testing
Invitae RCV000034915 SCV000623319 pathogenic Bloom syndrome 2018-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1283*) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 42089). 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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