ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3828+1G>A

dbSNP: rs1432988639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671445 SCV000796421 likely pathogenic Fanconi anemia complementation group A 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV001855559 SCV002181687 pathogenic Fanconi anemia 2023-11-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 38 of the FANCA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 21273304). ClinVar contains an entry for this variant (Variation ID: 555597). Studies have shown that disruption of this splice site results in skipping of exon 38, but is expected to preserve the integrity of the reading-frame (PMID: 21273304). This variant disrupts a region of the FANCA protein in which other variant(s) (p.Phe1263del) have been determined to be pathogenic (PMID: 9371798, 15643609, 21273304, 21659346). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000671445 SCV004196011 likely pathogenic Fanconi anemia complementation group A 2023-10-07 criteria provided, single submitter clinical testing

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