ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3627-3_3627-2del

dbSNP: rs2062172458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001879790 SCV002311533 likely pathogenic Fanconi anemia 2023-04-07 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 36 of the FANCA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted 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 Fanconi anemia (PMID: 15523645). ClinVar contains an entry for this variant (Variation ID: 974162). Studies have shown that disruption of this splice site results in skipping of exon 37 or deletion of 16 base pairs in exon 37 due to activation of a cryptic splice site and introduces a premature termination codon (PMID: 15523645). The resulting mRNA is expected to undergo nonsense-mediated decay. 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.
Baylor Genetics RCV001256407 SCV004196591 pathogenic Fanconi anemia complementation group A 2023-01-31 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256407 SCV001425853 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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