ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr) (rs142346881)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707171 SCV000836256 uncertain significance Autosomal recessive polycystic kidney disease 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 182 of the PKHD1 protein (p.Ala182Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs142346881, ExAC 0.006%). This variant has not been reported in the literature in individuals with PKHD1-related disease. ClinVar contains an entry for this variant (Variation ID: 161826). 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, 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.
Science for Life laboratory, Karolinska Institutet RCV000149362 SCV000089004 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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