Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000457201 | SCV000547775 | pathogenic | Fanconi anemia | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp1165Thrfs*34) 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 (rs758597713, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with head and neck squamous cell carcinoma (PMID: 28678401). ClinVar contains an entry for this variant (Variation ID: 408200). For these reasons, this variant has been classified as Pathogenic. |
Ai |
RCV002223210 | SCV002501463 | pathogenic | not provided | 2021-06-11 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000457201 | SCV002529840 | likely pathogenic | Fanconi anemia | 2021-01-23 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV001194983 | SCV002811465 | pathogenic | Fanconi anemia complementation group I | 2024-02-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000457201 | SCV002819343 | likely pathogenic | Fanconi anemia | 2022-12-08 | criteria provided, single submitter | clinical testing | Variant summary: FANCI c.3493delG (p.Asp1165ThrfsX34) 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. Truncations downstream of this position have been associated with Fanconi Anemia in HGMD. The variant allele was found at a frequency of 5.2e-05 in 251486 control chromosomes. c.3493delG has been reported in the literature as a compound heterozygous genotype in individuals affected with Fanconi Anemia (Chandrasekharappa_2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic (n=2) and likely pathogenic (n=1) . Based on the evidence outlined above, the variant was classified as likely pathogenic. |
Baylor Genetics | RCV001194983 | SCV004197156 | pathogenic | Fanconi anemia complementation group I | 2024-03-26 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194983 | SCV001364857 | pathogenic | Fanconi anemia complementation group I | 2013-10-04 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |