ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3311C>T (p.Ser1104Phe)

dbSNP: rs769085607
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001915657 SCV002186585 uncertain significance Autosomal recessive polycystic kidney disease 2021-01-14 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is present in population databases (rs769085607, ExAC 0.006%). This sequence change replaces serine with phenylalanine at codon 1104 of the PKHD1 protein (p.Ser1104Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine.

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