Submissions for variant NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)

gnomAD frequency: 0.00005  dbSNP: rs769248873

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460384	SCV000547830	pathogenic	Fanconi anemia	2024-11-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Tyr487*) 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 (rs769248873, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 26590883). ClinVar contains an entry for this variant (Variation ID: 408247). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago	RCV000502163	SCV000594727	pathogenic	Fanconi anemia complementation group I	2017-03-16	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000502163	SCV003799098	pathogenic	Fanconi anemia complementation group I	2022-10-10	criteria provided, single submitter	clinical testing	PVS1, PM2, PM3
GeneDx	RCV003235224	SCV003933332	likely pathogenic	not provided	2023-06-12	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29980644, 27538887, 26689913, 36451132, 29625052, 35929646, 26590883, 28678401)
Baylor Genetics	RCV000502163	SCV004197169	pathogenic	Fanconi anemia complementation group I	2024-03-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003235224	SCV005436615	pathogenic	not provided	2024-10-01	criteria provided, single submitter	clinical testing	FANCI: PVS1, PM2:Supporting, PM3:Supporting
Leiden Open Variation Database	RCV000502163	SCV001364870	pathogenic	Fanconi anemia complementation group I	2012-01-20	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.