ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9053C>T (p.Ser3018Phe)

dbSNP: rs137852945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753399 SCV001985428 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 16523049, 14741187, 12846734, 27225849, 11919560)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004585984 SCV005077044 uncertain significance not specified 2024-04-22 criteria provided, single submitter clinical testing Variant summary: PKHD1 c.9053C>T (p.Ser3018Phe) results in a non-conservative amino acid change located in the Right handed beta helix domain (IPR039448) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250210 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.9053C>T has been reported in the literature in individuals affected with Polycystic Kidney And Hepatic Disease (Ward_2002, Melchionda_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 11919560, 27225849). ClinVar contains an entry for this variant (Variation ID: 4110). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV000004326 SCV000024497 pathogenic Autosomal recessive polycystic kidney disease 2002-03-01 no assertion criteria provided literature only

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