Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082581 | SCV000114623 | likely benign | not specified | 2015-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000473573 | SCV000557652 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000082581 | SCV000592904 | uncertain significance | not specified | 2016-09-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000659055 | SCV000780862 | uncertain significance | not provided | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000473573 | SCV000799007 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000082581 | SCV000918005 | likely benign | not specified | 2023-03-16 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.8345G>C (p.Gly2782Ala) results in a non-conservative amino acid change located in the second G8 domain (IPR019316) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0027 in 251184 control chromosomes, including 3 homozygotes (gnomAD, exomes dataset). The variant was predominantly found within the Non-Finnish European subpopulation at a frequency of 0.005 that is somewhat lower than the maximum expected allele frequency for a pathogenic variant in PKHD1 causing Polycystic Kidney and Hepatic Disease (0.0071). c.8345G>C has been reported in the literature in an individual affected with Caroli Disease (example: Giacobbe_2022). The variant has also been reported in in the literature, where it was identified in 2/200 healthy control chromosomes (Sharp 2005, Bergmann 2005), and was listed as a polymorphism (benign) based on the criteria proposed by the authors. These report(s) do 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. Twelve other submitters have provided clinical-significance assessments for this variant in ClinVar after 2014 and classified the variant with conflicting assessments: likely pathogenic (n=1), VUS (n=6), benign/likely benign (n=5). Based on the evidence outlined above, the variant was classified as likely benign. |
Illumina Laboratory Services, |
RCV000473573 | SCV001325038 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Laboratory of Molecular Diagnosis of Genetic Disease, |
RCV001507100 | SCV001712071 | uncertain significance | Caroli disease | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000659055 | SCV001819713 | likely benign | not provided | 2020-11-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32359821, 15698423, 15805161) |
Mayo Clinic Laboratories, |
RCV000659055 | SCV002542180 | uncertain significance | not provided | 2022-05-03 | criteria provided, single submitter | clinical testing | PM2 |
Prevention |
RCV003935071 | SCV004756217 | likely benign | PKHD1-related disorder | 2020-10-27 | 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). |
Institute of Human Genetics Munich, |
RCV000473573 | SCV000680338 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-12-07 | flagged submission | clinical testing | |
Diagnostic Laboratory, |
RCV000659055 | SCV001741754 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Gastroenterology and Hepatology, |
RCV001844807 | SCV001876967 | uncertain significance | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research | |
Genome Diagnostics Laboratory, |
RCV000659055 | SCV001927976 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000082581 | SCV001969842 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000659055 | SCV002036519 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000473573 | SCV002077982 | benign | Autosomal recessive polycystic kidney disease | 2017-06-30 | no assertion criteria provided | clinical testing |