ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3022del (p.Glu1008fs)

dbSNP: rs1057516719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409280 SCV000486109 likely pathogenic Bloom syndrome 2016-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409280 SCV005781179 pathogenic Bloom syndrome 2024-06-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1008Lysfs*26) 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 sequence change creates a premature translational stop signal (p.Glu1008Lysfs*26) 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 not present in population databases (gnomAD no frequency). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 370723). ClinVar contains an entry for this variant (Variation ID: 370723). For these reasons, this variant has been classified as Pathogenic. For these reasons, this variant has been classified as Pathogenic.

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