Submissions for variant NM_000135.4(FANCA):c.2604_2609del

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	RCV001256500	SCV001478119	likely pathogenic	Fanconi anemia complementation group A	2020-12-15	criteria provided, single submitter	research
Invitae	RCV001879793	SCV002218142	pathogenic	Fanconi anemia	2023-09-21	criteria provided, single submitter	clinical testing	This variant, c.2604_2609del, results in the deletion of 2 amino acid(s) of the FANCA protein (p.Gln869_Phe870del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745864224, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 15643609, 17924555). ClinVar contains an entry for this variant (Variation ID: 974247). This variant disrupts a region of the FANCA protein in which other variant(s) (p.Gln869Pro) have been determined to be pathogenic (PMID: 15643609, 17924555, 29098742; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV001256500	SCV004196603	likely pathogenic	Fanconi anemia complementation group A	2022-11-29	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001256500	SCV001425965	pathogenic	Fanconi anemia complementation group A	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto, Johan de Winter.