ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2809C>T (p.Gln937Ter)

dbSNP: rs1596252279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001007657 SCV005640465 pathogenic Bloom syndrome 2024-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001007657 SCV005697882 pathogenic Bloom syndrome 2024-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln937*) 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: 31696992). ClinVar contains an entry for this variant (Variation ID: 694003). For these reasons, this variant has been classified as Pathogenic.
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles RCV001007657 SCV000998519 pathogenic Bloom syndrome no assertion criteria provided clinical testing

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