ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3345dup (p.Leu1116fs) (rs1553771818)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482717 SCV000567472 pathogenic not provided 2015-09-08 criteria provided, single submitter clinical testing The c.3345dupT duplication in the NPHP3 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.3345dupT duplication causes a frameshiftstarting with codon Leucine 1116, changes this amino acid to a Serine residue, and creates a prematureStop codon at position 18 of the new reading frame, denoted p.Leu1116SerfsX18. This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. The c.3345dupT duplicatin was not observed in approximately 6500 individuals of Europeanand African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.3345dupT as a pathogenic variant.

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