ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)

gnomAD frequency: 0.00005  dbSNP: rs121918164
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584965 SCV000692820 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Invitae RCV001384910 SCV001584587 pathogenic Fanconi anemia 2024-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1285*) 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 (rs121918164, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 17452773). ClinVar contains an entry for this variant (Variation ID: 973). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV000001024 SCV004047489 pathogenic Fanconi anemia complementation group I criteria provided, single submitter clinical testing The stop gained variant c.3853C>T (p.Arg1285Ter) in FANCI has been reported previously in heterozygous state in patients affected with individuals with Fanconi anemia (Dorsman et al.). The p.Arg1285Ter variant has allele frequency in gnomAD exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. The observed variant is not detected in the spouse.
Baylor Genetics RCV000001024 SCV004199188 likely pathogenic Fanconi anemia complementation group I 2023-10-28 criteria provided, single submitter clinical testing
OMIM RCV000001024 SCV000021174 pathogenic Fanconi anemia complementation group I 2007-01-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000001024 SCV001364861 pathogenic Fanconi anemia complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000584965 SCV001744607 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000584965 SCV001971033 pathogenic not provided no assertion criteria provided clinical testing

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