ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)

dbSNP: rs762804291
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668966 SCV000793651 pathogenic Bloom syndrome 2017-08-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000668966 SCV002018451 pathogenic Bloom syndrome 2019-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668966 SCV002237132 pathogenic Bloom syndrome 2023-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys662Ilefs*5) 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 (rs762804291, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with BLM-related conditions (PMID: 24118499). ClinVar contains an entry for this variant (Variation ID: 553499). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000668966 SCV004210904 pathogenic Bloom syndrome 2023-11-18 criteria provided, single submitter clinical testing

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