ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3261del (p.Phe1087fs)

dbSNP: rs1319786857
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525613 SCV000623305 pathogenic Bloom syndrome 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1087Leufs*11) 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 premature translational stop signal has been observed in individual(s) with Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 454132). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001019499 SCV001180867 pathogenic Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing The c.3261delT pathogenic mutation, located in coding exon 16 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 3261, causing a translational frameshift with a predicted alternate stop codon (p.F1087Lfs*11). This alteration has been detected in both the homozygous and compound heterozygous state in individuals affected with Bloom syndrome (German J et al. Hum. Mutat., 2007 Aug;28:743-53). In addition to the clinical data presented in the literature, 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.
GeneDx RCV003148774 SCV003837242 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17407155, 35022142)
PreventionGenetics, part of Exact Sciences RCV003403246 SCV004104741 pathogenic BLM-related disorder 2022-12-19 criteria provided, single submitter clinical testing The BLM c.3261delT variant is predicted to result in a frameshift and premature protein termination (p.Phe1087Leufs*11). This variant has been reported in the homozygous and compound heterozygous state in multiple individual with Bloom syndrome (German et al 2007. PubMed ID: 17407155). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in BLM are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV000525613 SCV004210873 pathogenic Bloom syndrome 2024-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000525613 SCV002090536 pathogenic Bloom syndrome 2017-03-16 no assertion criteria provided clinical testing

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