ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) (rs367543026)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169422 SCV000220831 likely pathogenic Bloom syndrome 2014-10-22 criteria provided, single submitter literature only
Invitae RCV000169422 SCV001228415 pathogenic Bloom syndrome 2019-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe194*) in the BLM gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to be homozygous in an individual affected with Bloom syndrome (PMID: 18471088). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.

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