ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6771T>G (p.Asn2257Lys)

dbSNP: rs1315333212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220449 SCV001392438 uncertain significance Autosomal recessive polycystic kidney disease 2019-07-06 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 2257 of the PKHD1 protein (p.Asn2257Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine.
GeneDx RCV002281172 SCV002569789 uncertain significance not provided 2022-08-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 33611337)

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