ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8861C>T (p.Thr2954Ile)

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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 RCV003338033 SCV004048580 uncertain significance Polycystic kidney disease 4 criteria provided, single submitter clinical testing The missense c.8861C>T (p.Thr2954Ile) variant in in PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn541Asp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Thr at position 2954 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Thr2954Ile 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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