ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys) (rs776275341)

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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 RCV000733553 SCV000861632 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000205421 SCV000261751 uncertain significance Autosomal recessive polycystic kidney disease 2015-10-29 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 1863 of the PKHD1 protein (p.Gly1863Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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