ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.93C>A (p.Ser31Arg)

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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 RCV003448804 SCV004176548 uncertain significance Polycystic kidney disease 4 2023-02-14 criteria provided, single submitter clinical testing The missense c.93C>A(p.Ser31Arg) variant in PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser31Arg variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Ser31Arg in PKHD1 is predicted as conserved by GERP++. The amino acid Ser at position 31 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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