ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8837T>C (p.Leu2946Ser)

dbSNP: rs1582469785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820220 SCV000960924 uncertain significance Autosomal recessive polycystic kidney disease 2018-09-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PKHD1-related disease. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with serine at codon 2946 of the PKHD1 protein (p.Leu2946Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.
Fulgent Genetics, Fulgent Genetics RCV002507439 SCV002816930 uncertain significance Polycystic kidney disease 4 2021-07-14 criteria provided, single submitter clinical testing

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