ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)

dbSNP: rs777183511
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472049 SCV000545839 uncertain significance Autosomal recessive polycystic kidney disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 757 of the PKHD1 protein (p.Ile757Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs777183511, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 406884). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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 RCV002481409 SCV002777816 uncertain significance Polycystic kidney disease 4 2022-03-11 criteria provided, single submitter clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844832 SCV001876990 uncertain significance Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research
Natera, Inc. RCV000472049 SCV002081040 uncertain significance Autosomal recessive polycystic kidney disease 2018-12-19 no assertion criteria provided clinical testing

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