ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.56G>A (p.Arg19His)

gnomAD frequency: 0.00001  dbSNP: rs1375765328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001160293 SCV001322083 uncertain significance Autosomal recessive polycystic kidney disease 2017-08-22 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001160293 SCV001571090 uncertain significance Autosomal recessive polycystic kidney disease 2021-08-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 19 of the PKHD1 protein (p.Arg19His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of polycystic kidney disease (PMID: 25701400). ClinVar contains an entry for this variant (Variation ID: 909294). 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.
Fulgent Genetics, Fulgent Genetics RCV002491467 SCV002776128 uncertain significance Polycystic kidney disease 4 2021-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001160293 SCV002083428 uncertain significance Autosomal recessive polycystic kidney disease 2019-03-14 no assertion criteria provided clinical testing

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