Submissions for variant NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003635812	SCV004509423	pathogenic	Fanconi anemia	2024-04-10	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Phe818*) 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 variant has not been reported in the literature in individuals affected with FANCA-related conditions. For these reasons, this variant has been classified as Pathogenic.
3billion	RCV005254865	SCV005905744	likely pathogenic	Fanconi anemia complementation group A	2023-08-22	criteria provided, single submitter	clinical testing	The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.