ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.55C>T (p.Arg19Cys)

gnomAD frequency: 0.00002  dbSNP: rs767379405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596972 SCV000707146 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000664713 SCV000788717 uncertain significance Autosomal recessive polycystic kidney disease 2017-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476322 SCV000897307 uncertain significance Polycystic kidney disease 4 2021-11-18 criteria provided, single submitter clinical testing
Invitae RCV000664713 SCV003257703 uncertain significance Autosomal recessive polycystic kidney disease 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 19 of the PKHD1 protein (p.Arg19Cys). This variant is present in population databases (rs767379405, gnomAD 0.04%). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 27225849). ClinVar contains an entry for this variant (Variation ID: 500969). 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: "Benign"; 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.

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