ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2T>C (p.Met1Thr) (rs886041990)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000360279 SCV000330810 pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing The c.2T>C pathogenic variant in the NPHP3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. As this pathogenic variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. The c.2T>C variant was not observed in approximately 5,500 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.2T>C as a pathogenic variant.

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