ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)

dbSNP: rs1555424372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672249 SCV000797340 likely pathogenic Bloom syndrome 2018-01-23 criteria provided, single submitter clinical testing
Invitae RCV000672249 SCV004453150 pathogenic Bloom syndrome 2023-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556262). 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.Phe1189Tyrfs*27) 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).

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