ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)

gnomAD frequency: 0.00001  dbSNP: rs1385885533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205465 SCV001376725 pathogenic Fanconi anemia 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly857Alafs*6) 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 (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 936631). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497697 SCV002810429 likely pathogenic Fanconi anemia complementation group I 2021-07-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001205465 SCV003922780 likely pathogenic Fanconi anemia 2023-03-30 criteria provided, single submitter clinical testing Variant summary: FANCI c.2568_2569delAG (p.Gly857AlafsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 6.3e-06 in 158550 control chromosomes. To our knowledge, no occurrence of c.2568_2569delAG in individuals affected with Fanconi Anemia and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV002497697 SCV004197236 likely pathogenic Fanconi anemia complementation group I 2022-08-18 criteria provided, single submitter clinical testing

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