Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087159 | SCV000629937 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000592975 | SCV000702120 | uncertain significance | not provided | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780599 | SCV000918007 | uncertain significance | not specified | 2017-12-11 | criteria provided, single submitter | clinical testing | Variant summary: The c.9553G>A (p.Val3185Ile) in PKHD1 gene is a missense variant involves a non-conserved nucleotide located outside of any known functional domain or repeat. The 4/4 in silico tools used predict benign outcome for this variant, however no functional studies supporting these predictions were published at the time of evaluation. The c. 9553G>A was identified in the control population dataset of gnomAD at a low frequency of 0.00024 (69/276536 chrs tested), predominantly in individuals of African descent (0.0027; 64/24022 chrs). The observed frequencies do not exceed the maximum expected allele frequency for a pathogenic variant of 0.007, suggesting that it is not a common polymorphism. To our knowledge, the variant has not been reported in affected individuals via peer-reviewed reports or cited by reputable databases/clinical laboratories. Taken together, the variant was classified as VUS, until new information becomes available. |
Mayo Clinic Laboratories, |
RCV000592975 | SCV002542178 | uncertain significance | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | BP4 |
Ambry Genetics | RCV002527687 | SCV003717429 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.9553G>A (p.V3185I) alteration is located in exon 58 (coding exon 57) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 9553, causing the valine (V) at amino acid position 3185 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003962477 | SCV004791316 | likely benign | PKHD1-related disorder | 2022-12-12 | 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). |
Natera, |
RCV001087159 | SCV001455237 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-04-17 | no assertion criteria provided | clinical testing |