ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) (rs1366295189)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731567 SCV000859405 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing
Invitae RCV000633422 SCV000754644 uncertain significance Autosomal recessive polycystic kidney disease 2017-11-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 2477 of the PKHD1 protein (p.Phe2477Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PKHD1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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