ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)

dbSNP: rs1555419873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668814 SCV000793478 likely pathogenic Bloom syndrome 2017-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668814 SCV002946257 pathogenic Bloom syndrome 2022-05-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 553382). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This sequence change creates a premature translational stop signal (p.Thr477Aspfs*24) 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).
Baylor Genetics RCV000668814 SCV005058145 likely pathogenic Bloom syndrome 2023-12-21 criteria provided, single submitter clinical testing

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