Submissions for variant NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)

dbSNP: rs1363946483

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003523063	SCV004279654	pathogenic	Fanconi anemia	2023-05-01	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 915871). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 33224012). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Cys80*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV001255874	SCV005051767	likely pathogenic	Fanconi anemia complementation group A	2024-02-01	criteria provided, single submitter	curation
Baylor Genetics	RCV001255874	SCV005057554	pathogenic	Fanconi anemia complementation group A	2024-02-29	criteria provided, single submitter	clinical testing
Istanbul Faculty of Medicine, Istanbul University	RCV001255874	SCV001296379	likely pathogenic	Fanconi anemia complementation group A	2020-03-17	no assertion criteria provided	clinical testing	Segregates in family
Leiden Open Variation Database	RCV001255874	SCV001425620	pathogenic	Fanconi anemia complementation group A	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.