ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5642C>A (p.Ser1881Tyr)

dbSNP: rs864622533
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204036 SCV000261009 uncertain significance Autosomal recessive polycystic kidney disease 2015-12-23 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 1881 of the PKHD1 protein (p.Ser1881Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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