Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724186 | SCV000227968 | uncertain significance | not provided | 2014-08-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000249026 | SCV000315787 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001160100 | SCV001321869 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV001160100 | SCV001719164 | benign | Autosomal recessive polycystic kidney disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724186 | SCV001818992 | likely benign | not provided | 2020-01-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000249026 | SCV001983697 | benign | not specified | 2021-09-12 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.2279+13T>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0058 in 251050 control chromosomes, predominantly at a frequency of 0.0091 within the Non-Finnish European subpopulation in the gnomAD database, including 5 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 1.3 fold of the estimated maximal expected allele frequency for a pathogenic variant in PKHD1 causing Polycystic Kidney And Hepatic Disease phenotype (0.0071), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. To our knowledge, no occurrence of c.2279+13T>G in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as benign. |
Ce |
RCV000724186 | SCV004163601 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | PKHD1: BS2 |
Natera, |
RCV001160100 | SCV002081037 | benign | Autosomal recessive polycystic kidney disease | 2018-04-16 | no assertion criteria provided | clinical testing |