ClinVar Miner

Submissions for variant NC_000015.10:g.(?_90790643)_(90790850_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628720 SCV000749626 pathogenic Bloom syndrome 2017-09-06 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 15 of the BLM gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 15 has been reported in the literature in an individual with Bloom syndrome who also had a second pathogenic BLM variant (PMID: 17407155). 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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