ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3765+2C>T

dbSNP: rs776827467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237762 SCV001410536 likely pathogenic Fanconi anemia 2021-12-16 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 963699). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (rs776827467, gnomAD 0.003%). This sequence change affects a donor splice site in intron 37 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 RCV003469445 SCV004196586 likely pathogenic Fanconi anemia complementation group A 2023-03-02 criteria provided, single submitter clinical testing

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