ClinVar Miner

Submissions for variant NM_012338.4(TSPAN12):c.67-2A>G

dbSNP: rs1057518477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413300 SCV000492153 likely pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing The c.67-2A>G variant in the TSPAN12 gene has not been reported previously as a pathogenic variant nor as abenign variant, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 2. It ispredicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediatedmRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.67-2A>G variantwas not observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. The c.67-2A>Gvariant is a strong candidate for a pathogenic variant which may be related to the reported worsening vision in thisindividual, however the possibility it may be a rare benign variant cannot be excluded.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253220 SCV001428828 likely pathogenic Exudative vitreoretinopathy 5 2019-01-04 criteria provided, single submitter clinical testing

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