ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1226-1G>C

dbSNP: rs1417768931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889270 SCV002159820 pathogenic Fanconi anemia 2023-08-21 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with Fanconi anemia (PMID: 29098742; Invitae). ClinVar contains an entry for this variant (Variation ID: 1389482). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change affects an acceptor splice site in intron 13 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 RCV004571540 SCV005057551 likely pathogenic Fanconi anemia complementation group A 2024-03-03 criteria provided, single submitter clinical testing

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