ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6427G>A (p.Gly2143Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337758 SCV004048018 uncertain significance Polycystic kidney disease 4 criteria provided, single submitter clinical testing The missense c.6427G>A (p.Gly2143Arg) variant in PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is observed in 0.0003% alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid Gly at position 2143 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gly2143Arg in PKHD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. In the absence of second reportable variant , the molecular diagnosis is not confirmed.

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