Submissions for variant NM_000135.4(FANCA):c.1900+1G>T

dbSNP: rs1598120768

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000809003	SCV000949137	likely pathogenic	Fanconi anemia	2022-01-18	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 653259). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 21 of the FANCA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).
Baylor Genetics	RCV003467430	SCV004196072	likely pathogenic	Fanconi anemia complementation group A	2023-11-13	criteria provided, single submitter	clinical testing