Submissions for variant NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)

dbSNP: rs753980264

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000674201	SCV000799499	pathogenic	Fanconi anemia complementation group A	2018-04-23	criteria provided, single submitter	clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	RCV000674201	SCV000889965	pathogenic	Fanconi anemia complementation group A	2018-07-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001069523	SCV001234696	pathogenic	Fanconi anemia	2023-10-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg591*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 10521298, 21273304, 22778927, 29098742). ClinVar contains an entry for this variant (Variation ID: 557990). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV003222094	SCV003917867	pathogenic	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FANCA: PVS1, PM2, PM3:Supporting
Baylor Genetics	RCV000674201	SCV004196112	pathogenic	Fanconi anemia complementation group A	2023-05-22	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000674201	SCV001425670	pathogenic	Fanconi anemia complementation group A	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter, Sue Richards.