ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2488dup (p.Thr830fs)

gnomAD frequency: 0.00001  dbSNP: rs367543019
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000035005 SCV000486744 likely pathogenic Bloom syndrome 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000035005 SCV000834671 pathogenic Bloom syndrome 2022-09-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 42178). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Bloom syndrome (PMID: 17407155). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs772909011, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Thr830Asnfs*5) 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).
Ambry Genetics RCV002426544 SCV002741776 pathogenic Hereditary cancer-predisposing syndrome 2022-09-07 criteria provided, single submitter clinical testing The c.2488dupA pathogenic mutation, located in coding exon 11 of the BLM gene, results from a duplication of A at nucleotide position 2488, causing a translational frameshift with a predicted alternate stop codon (p.T830Nfs*5). This alteration was reported in an individual with a second protein truncating BLM alteration and a clinical diagnosis of Bloom syndrome (German J et al. Hum. Mutat., 2007 Aug;28:743-53). In addition to the information presented in the literature, since 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 RCV000035005 SCV004210931 pathogenic Bloom syndrome 2024-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000035005 SCV002088075 pathogenic Bloom syndrome 2017-03-16 no assertion criteria provided clinical testing

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