ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp)

dbSNP: rs543037335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241148 SCV001414143 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1926 of the PKHD1 protein (p.Arg1926Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs543037335, ExAC 0.006%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002484322 SCV002789408 uncertain significance Polycystic kidney disease 4 2021-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001241148 SCV002078068 uncertain significance Autosomal recessive polycystic kidney disease 2017-08-10 no assertion criteria provided clinical testing

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