ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)

gnomAD frequency: 0.00001  dbSNP: rs759930967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808568 SCV000948680 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 1402 of the PKHD1 protein (p.Cys1402Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs759930967, ExAC 0.001%). 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: "Deleterious"; PolyPhen-2: "Probably 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.
Fulgent Genetics, Fulgent Genetics RCV002487743 SCV002793528 uncertain significance Polycystic kidney disease 4 2021-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000808568 SCV001463307 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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