ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)

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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 RCV002810370 SCV003197551 pathogenic Bloom syndrome 2022-05-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1003*) 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).
Baylor Genetics RCV002810370 SCV005058131 likely pathogenic Bloom syndrome 2024-01-24 criteria provided, single submitter clinical testing

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