Submissions for variant NM_000135.4(FANCA):c.3626+4C>T

gnomAD frequency: 0.00001  dbSNP: rs772166806

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000996415	SCV001151103	uncertain significance	not provided	2018-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001055620	SCV001220020	uncertain significance	Fanconi anemia	2023-11-07	criteria provided, single submitter	clinical testing	This sequence change falls in intron 36 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs772166806, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 808164). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4	RCV001055620	SCV002535018	uncertain significance	Fanconi anemia	2021-08-20	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002497304	SCV002781335	uncertain significance	Fanconi anemia complementation group A	2022-05-26	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001055620	SCV002092515	uncertain significance	Fanconi anemia	2020-12-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003898015	SCV004714096	likely benign	FANCA-related disorder	2021-07-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).