ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter)

dbSNP: rs753973474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889951 SCV002139632 pathogenic Bloom syndrome 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr699*) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is present in population databases (rs753973474, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BLM-related conditions.

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