Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002104043 | SCV002393050 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282689 | SCV002571034 | uncertain significance | not specified | 2022-07-12 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.4039G>A (p.Val1347Met) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00012 in 251314 control chromosomes (gnomAD, Sharp_2005). This frequency is not significantly higher than expected for a pathogenic variant in PKHD1 causing Polycystic Kidney And Hepatic Disease (0.00012 vs 0.0071), allowing no conclusion about variant significance. c.4039G>A has been reported in the literature in individuals affected with Polycystic Kidney Disease (Sharp_2005). This report does not provide unequivocal conclusions about association of the variant with Polycystic Kidney And Hepatic Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Gene |
RCV003443007 | SCV004167830 | uncertain significance | not provided | 2023-04-03 | criteria provided, single submitter | clinical testing | Reported in a patient with polycystic kidney disease in published literature (Sharp et al., 2005); limited case-level information provided; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15805161) |