ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)

dbSNP: rs1555423119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672550 SCV000797663 likely pathogenic Bloom syndrome 2018-02-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672550 SCV002166617 pathogenic Bloom syndrome 2021-05-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 556531). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met1006Aspfs*16) 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).

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