ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) (rs191201723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529518 SCV000629918 uncertain significance Autosomal recessive polycystic kidney disease 2017-03-07 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1400 of the PKHD1 protein (p.Ser1400Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs191201723, ExAC 0.01%). This variant has been reported in an individual affected with polycystic kidney disease, however a second variant was not identified in this individual (PMID: 27225849). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000529518 SCV000789848 uncertain significance Autosomal recessive polycystic kidney disease 2017-02-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733218 SCV000861255 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing

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