ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)

gnomAD frequency: 0.00001  dbSNP: rs552199185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290045 SCV002581654 uncertain significance Polycystic kidney disease 4 2022-07-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002290045 SCV003808420 uncertain significance Polycystic kidney disease 4 2022-01-14 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV002290045 SCV005690638 uncertain significance Polycystic kidney disease 4 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.7400T>C(p.Leu2467Pro) in the PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.003%) in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Leu at position 2467 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Leu2467Pro in PKHD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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