ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs)

dbSNP: rs1567045130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696140 SCV000824688 pathogenic Bloom syndrome 2020-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 574253). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu785Valfs*31) in the BLM gene. It is expected to result in an absent or disrupted protein product.

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