ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12310_12313dup (p.Ile4105fs)

dbSNP: rs1555444602
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486282 SCV000572840 pathogenic not provided 2017-01-19 criteria provided, single submitter clinical testing The c.12310_12313dupGTTA variant in the PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Isoleucine 4105, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 53 of the new reading frame, denoted p.Ile4105SerfsX53. This variant is predicted to cause loss of normal protein function through protein truncation. The c.12310_12313dupGTTA variant was not observed in approximately 6500 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.12310_12313dupGTTA as a pathogenic variant.

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