ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer)

dbSNP: rs1895946786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246107 SCV001419445 pathogenic Bloom syndrome 2019-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser419*) in the BLM gene. It is expected to result in an absent or disrupted protein product.

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