ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys)

gnomAD frequency: 0.00001  dbSNP: rs557405366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699305 SCV000828010 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3620 of the PKHD1 protein (p.Arg3620Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, University Hospital Muenster RCV002287439 SCV002578024 uncertain significance See cases 2022-09-23 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3
Natera, Inc. RCV000699305 SCV001455053 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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