ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.1127+2T>C

dbSNP: rs1057524251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438142 SCV000534982 pathogenic not provided 2017-01-05 criteria provided, single submitter clinical testing The c.1127+2T>C variant in the PLOD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 10. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1127+2T>C variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1127+2T>C as a pathogenic variant.

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