ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.313-3A>G

dbSNP: rs1064796910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482191 SCV000574118 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing The c.313-3A>G variant in the OFD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. In silico analyses predict this variant destroys the natural splice acceptor site in intron 3, resulting in abnormal gene splicing. However, this variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. We interpret c.313-3A>G as a variant of uncertain significance.

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