ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) (rs754203833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671593 SCV000796581 likely pathogenic Bloom syndrome 2017-12-19 criteria provided, single submitter clinical testing
Invitae RCV000671593 SCV000824659 pathogenic Bloom syndrome 2018-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser434*) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754203833, ExAC 0.01%). This variant has not been reported in the literature in individuals with BLM-related disease. 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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