ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)

gnomAD frequency: 0.00001  dbSNP: rs748000458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778449 SCV000914697 likely pathogenic Fanconi anemia complementation group I 2018-12-12 criteria provided, single submitter clinical testing The FANCI c.2509G>T (p.Glu837Ter) variant is a stop-gained variant. The p.Glu837Ter variant has been reported in three studies, in three individuals with Fanconi anemia. In two cases, the variant was found in a compound heterozygous state, in trans with either a frameshift variant or a missense variant (Sims et al. 2007; Rechitsky et al. 2011). A third affected individual harbored the p.Glu837Ter variant in a heterozygous state and a second variant was not found (Ameziane et al. 2008). The p.Glu837Ter variant is reported at a frequency of 0.000100 of the European (non-Finnish) population from the Exome Aggregation Consortium but this is based on one allele so the variant is presumed to be rare. Based on the evidence and due to the potential impact of stop-gained variants, the p.Glu837Ter variant is classified as likely pathogenic for Fanconi anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV002536730 SCV003253683 pathogenic Fanconi anemia 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu837*) in the FANCI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). This variant is present in population databases (rs748000458, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17460694). ClinVar contains an entry for this variant (Variation ID: 631743). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000778449 SCV004199191 pathogenic Fanconi anemia complementation group I 2023-10-19 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000778449 SCV001364876 pathogenic Fanconi anemia complementation group I 2020-02-27 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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