Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000224543 | SCV000230603 | uncertain significance | not provided | 2018-05-30 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224543 | SCV000280843 | uncertain significance | not provided | 2015-02-11 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Fulgent Genetics, |
RCV000765886 | SCV000897293 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765886 | SCV001000779 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000765886 | SCV001327412 | likely benign | Autosomal recessive polycystic kidney disease | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000224543 | SCV001983334 | uncertain significance | not provided | 2023-10-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24109560, 29642553, 21228398, 15805161, 16523049) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282003 | SCV002571035 | uncertain significance | not specified | 2022-07-12 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.6854G>A (p.Gly2285Glu) results in a non-conservative amino acid change located in the right handed beta helix domain (IPR039448) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0013 in 250680 control chromosomes (gnomAD and Sharp_2005). This frequency is not significantly higher than estimated for a pathogenic variant in PKHD1 causing Polycystic Kidney And Hepatic Disease (0.0013 vs 0.0071), allowing no conclusion about variant significance. c.6854G>A has been reported in the literature in the compound heterozygous state in an individual affected with a milder, predominant biliary phenotype of polycystic kidney disease (Adeva_2006). 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. Eight submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 with conflicting assessments (VUS n=5, likely benign n=3). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Mayo Clinic Laboratories, |
RCV000224543 | SCV004227249 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | BP4 |
Prevention |
RCV003917663 | SCV004733678 | likely benign | PKHD1-related disorder | 2023-09-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Ce |
RCV000224543 | SCV004810939 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | PKHD1: BP4 |
Natera, |
RCV000765886 | SCV001455258 | uncertain significance | Autosomal recessive polycystic kidney disease | 2019-12-19 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000224543 | SCV001744038 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Gastroenterology and Hepatology, |
RCV001844816 | SCV001877013 | likely benign | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research | |
Genome Diagnostics Laboratory, |
RCV000224543 | SCV001932579 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000224543 | SCV001969297 | likely benign | not provided | no assertion criteria provided | clinical testing |