Submissions for variant NM_000135.4(FANCA):c.3813dup (p.His1272fs)

gnomAD frequency: 0.00001  dbSNP: rs1555534521

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001855583	SCV002162805	pathogenic	Fanconi anemia	2024-08-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.His1272Thrfs*6) 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: 15643609, 29098742). ClinVar contains an entry for this variant (Variation ID: 556740). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV000672788	SCV002809825	pathogenic	Fanconi anemia complementation group A	2021-09-09	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000672788	SCV004196605	pathogenic	Fanconi anemia complementation group A	2024-03-20	criteria provided, single submitter	clinical testing
GeneDx	RCV004760692	SCV005371713	pathogenic	not provided	2024-04-02	criteria provided, single submitter	clinical testing	Frameshift 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35417938, 15643609, 29098742)
Counsyl	RCV000672788	SCV000797930	pathogenic	Fanconi anemia complementation group A	2018-02-15	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].
Leiden Open Variation Database	RCV000672788	SCV001425998	pathogenic	Fanconi anemia complementation group A	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.