ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3638del (p.Glu1213fs)

dbSNP: rs1057516547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412256 SCV000485854 likely pathogenic Bloom syndrome 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV000412256 SCV002168727 pathogenic Bloom syndrome 2022-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 370511). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1213Glyfs*66) 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).
Revvity Omics, Revvity RCV000412256 SCV003820222 likely pathogenic Bloom syndrome 2022-02-07 criteria provided, single submitter clinical testing

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