ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1628T>G (p.Leu543Ter)

dbSNP: rs367543038
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389745 SCV001591198 pathogenic Bloom syndrome 2024-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu543*) 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 premature translational stop signal has been observed in individual(s) with clinical features of Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 1076010). For these reasons, this variant has been classified as Pathogenic.

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