ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)

dbSNP: rs2151194897
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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 RCV001381701 SCV001580197 pathogenic Bloom syndrome 2023-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1216*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1069740). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478807 SCV004222487 likely pathogenic not provided 2023-05-24 criteria provided, single submitter clinical testing The BLM c.3646A>T (p.Lys1216*) variant is predicted to cause the premature termination of BLM protein synthesis. This variant has not been reported in individuals with BLM-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.

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