ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.4362-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281631 SCV001468963 pathogenic not provided criteria provided, single submitter clinical testing
Invitae RCV001318249 SCV001508943 uncertain significance Cataract 18 2020-12-03 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with FYCO1-related conditions. This variant is present in population databases (rs764470073, ExAC 0.002%). This sequence change affects an acceptor splice site in the last intron (intron 17) of the FYCO1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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