ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3066+3_3066+9delinsCC

dbSNP: rs2038616017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241684 SCV001414718 uncertain significance Fanconi anemia 2019-10-23 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 31 of the FANCA gene. It does not directly change the encoded amino acid sequence of the FANCA protein, but it affects a nucleotide within the consensus splice site of the intron.

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