ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)

dbSNP: rs1582038191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788572 SCV000927727 likely pathogenic not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV000813103 SCV000953443 uncertain significance Autosomal recessive polycystic kidney disease 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 372 of the PKHD1 protein (p.Phe372Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual with autosomal recessive polycystic kidney disease (PMID: 15698423, 16677362). 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"). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000788572 SCV001446984 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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