ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)

dbSNP: rs201881567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002015121 SCV002281639 pathogenic Autosomal recessive polycystic kidney disease 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 2422 of the PKHD1 protein (p.Cys2422Arg). This variant is present in population databases (rs201881567, gnomAD 0.02%). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 19914852, 27752906; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1494871). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PKHD1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002492293 SCV002798961 likely pathogenic Polycystic kidney disease 4 2022-04-13 criteria provided, single submitter clinical testing

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