ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3508del (p.Tyr1170fs)

dbSNP: rs1555424311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674492 SCV000799838 likely pathogenic Bloom syndrome 2018-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020477 SCV001181963 pathogenic Hereditary cancer-predisposing syndrome 2019-05-15 criteria provided, single submitter clinical testing The c.3508delT pathogenic mutation, located in coding exon 17 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 3508, causing a translational frameshift with a predicted alternate stop codon (p.Y1170Mfs*2). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000674492 SCV001591552 pathogenic Bloom syndrome 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1170Metfs*2) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558254). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency).

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