ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)

dbSNP: rs1412341951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388693 SCV001589768 pathogenic Bloom syndrome 2020-06-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly804*) in the BLM gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV001388693 SCV004210928 likely pathogenic Bloom syndrome 2022-11-19 criteria provided, single submitter clinical testing

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