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

gnomAD frequency: 0.00005  dbSNP: rs121918164

Total submissions: 8

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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	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