ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.497C>G (p.Ser166Ter)

dbSNP: rs896357448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241670 SCV001414701 pathogenic Bloom syndrome 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser166*) 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). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant has not been reported in the literature in individuals with BLM-related conditions.

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