Submissions for variant NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)

gnomAD frequency: 0.00005  dbSNP: rs567357782

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595106	SCV000704651	uncertain significance	not provided	2016-12-14	criteria provided, single submitter	clinical testing
Invitae	RCV000803680	SCV000943562	uncertain significance	Autosomal recessive polycystic kidney disease	2021-09-01	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with tryptophan at codon 73 of the PKHD1 protein (p.Arg73Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs567357782, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 499252). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics	RCV002483603	SCV002792352	uncertain significance	Polycystic kidney disease 4	2022-01-25	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000803680	SCV001453464	uncertain significance	Autosomal recessive polycystic kidney disease	2018-07-24	no assertion criteria provided	clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center	RCV001844838	SCV001876977	uncertain significance	Autosomal dominant polycystic liver disease	2021-09-01	no assertion criteria provided	research