ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)

dbSNP: rs367543039
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231693 SCV001404224 pathogenic Bloom syndrome 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 42072). This premature translational stop signal has been observed in individual(s) with Bloom syndrome (PMID: 17407155). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Trp881*) 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 RCV002426543 SCV002743390 pathogenic Hereditary cancer-predisposing syndrome 2022-07-06 criteria provided, single submitter clinical testing The p.W881* pathogenic mutation (also known as c.2643G>A), located in coding exon 12 of the BLM gene, results from a G to A substitution at nucleotide position 2643. This changes the amino acid from a tryptophan to a stop codon within coding exon 12. This variant has been detected in the homozygous state in an individual diagnosed with Bloom syndrome (Renes JS et al. J Clin Endocrinol Metab, 2013 Oct;98:3932-8). 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.
Baylor Genetics RCV001231693 SCV004210842 pathogenic Bloom syndrome 2024-01-30 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001231693 SCV001432297 pathogenic Bloom syndrome no assertion criteria provided clinical testing
Natera, Inc. RCV001231693 SCV002088097 pathogenic Bloom syndrome 2017-03-16 no assertion criteria provided clinical testing

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