Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790780 | SCV000225937 | pathogenic | not provided | 2014-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000174614 | SCV000260958 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr311Leufs*8) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is present in population databases (rs398124501, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with congenital anomalies (PMID: 26633542). ClinVar contains an entry for this variant (Variation ID: 96442). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000174614 | SCV001163074 | pathogenic | Autosomal recessive polycystic kidney disease | criteria provided, single submitter | clinical testing | ||
Victorian Clinical Genetics Services, |
RCV000174614 | SCV001427118 | pathogenic | Autosomal recessive polycystic kidney disease | 2018-05-21 | criteria provided, single submitter | clinical testing | A heterozygous frameshift deletion variant, NM_138694.3(PKHD1):c.930delC, has been identified in exon 13 of 67 of the PKHD1 gene. This deletion is predicted to create a frameshift starting at amino acid position 311, introducing a stop codon 8 residues downstream (NP_619639.3(PKHD1):p.(Thr311Leufs*8)). This variant is predicted to result in loss of protein function either through truncation (including the loss of multiple domains) or nonsense-mediated decay, which is a reported mechanism of pathogenicity for this gene. The variant is present in the gnomAD database at a frequency of 0.002% (7/275288 heterozygotes and 0 homozygotes). The variant has been previously reported as pathogenic in association with polycystic kidney disease (ClinVar). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC. |
Fulgent Genetics, |
RCV001535976 | SCV001752640 | pathogenic | Polycystic kidney disease 4 | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000790780 | SCV001778647 | pathogenic | not provided | 2023-10-25 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26633542, 30650191, 32939031) |
Baylor Genetics | RCV001535976 | SCV004202205 | pathogenic | Polycystic kidney disease 4 | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000174614 | SCV001132268 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2015-07-08 | no assertion criteria provided | clinical testing |