ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1226-13G>A

dbSNP: rs377159744
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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 RCV001997714 SCV002246355 uncertain significance Fanconi anemia 2021-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002463369 SCV002757844 uncertain significance Fanconi anemia complementation group A 2022-06-03 criteria provided, single submitter clinical testing

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