ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.829-16A>G

dbSNP: rs886658439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001318606 SCV001509314 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2021-07-22 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the OFD1 gene. It does not directly change the encoded amino acid sequence of the OFD1 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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 OFD1-related conditions. This variant is not present in population databases (ExAC no frequency).

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