ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs)

dbSNP: rs1897238597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243070 SCV001416203 pathogenic Bloom syndrome 2019-10-17 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1246Glnfs*10) in the BLM gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003294138 SCV004001017 pathogenic Hereditary cancer-predisposing syndrome 2023-06-05 criteria provided, single submitter clinical testing The c.3737_3738delTC pathogenic mutation, located in coding exon 18 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 3737 to 3738, causing a translational frameshift with a predicted alternate stop codon (p.L1246Qfs*10). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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