ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)

dbSNP: rs1234064430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670866 SCV000795778 likely pathogenic Bloom syndrome 2017-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670866 SCV001404526 pathogenic Bloom syndrome 2019-09-14 criteria provided, single submitter clinical testing Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). 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: 555115). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1231Serfs*11) in the BLM gene. It is expected to result in an absent or disrupted protein product.

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