ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)

dbSNP: rs1555420602
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673943 SCV000799203 likely pathogenic Bloom syndrome 2018-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673943 SCV000943928 pathogenic Bloom syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr764Cysfs*10) 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: 557764). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001015091 SCV001175885 pathogenic Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing The c.2291_2292delAT pathogenic mutation, located in coding exon 9 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 2291 to 2292, causing a translational frameshift with a predicted alternate stop codon (p.Y764Cfs*10). 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.
Baylor Genetics RCV000673943 SCV004210851 likely pathogenic Bloom syndrome 2023-09-28 criteria provided, single submitter clinical testing

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