ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.655-8A>G

dbSNP: rs1555902797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579345 SCV000681385 likely pathogenic not provided 2018-01-23 criteria provided, single submitter clinical testing The c.655-8 A>G variant has been reported apparently de novo in a patient with a clinical diagnosis of oral-facial-digital syndrome (Bruel et al., 2017). The c.655-8 A>G variant is not observed in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.655-8 A>G destroys the natural splice acceptor site which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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