ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)

dbSNP: rs1581806804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799231 SCV000938885 uncertain significance Autosomal recessive polycystic kidney disease 2018-09-11 criteria provided, single submitter clinical testing This variant has been observed to be homozygous in an individual affected with polycystic kidney disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glutamic acid at codon 1502 of the PKHD1 protein (p.Val1502Glu). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glutamic acid. 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.
Natera, Inc. RCV000799231 SCV002078105 uncertain significance Autosomal recessive polycystic kidney disease 2021-04-14 no assertion criteria provided clinical testing

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