Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169415 | SCV000220821 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2014-10-21 | criteria provided, single submitter | literature only | |
Eurofins Ntd Llc |
RCV000725681 | SCV000338570 | pathogenic | not provided | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000169415 | SCV000699849 | pathogenic | Autosomal recessive polycystic kidney disease | 2017-01-26 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.1480C>T (p.Arg494X) variant results in a premature termination codon, predicted to cause a truncated or absent PKHD1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.1486C>T/p.Arg496X, c.3761_3762delinsG/p.Ala1254fsX49). One in silico tool predicts a damaging outcome for this variant. This variant has been reported in at least three ARPKD patients and is absent in 121400 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant is classified as pathogenic. |
Center for Personalized Medicine, |
RCV000735398 | SCV000854553 | pathogenic | Polycystic kidney disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000169415 | SCV000948795 | pathogenic | Autosomal recessive polycystic kidney disease | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg494*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with clinical features of polycystic kidney disease (PMID: 15108281, 16523049, 19940839). ClinVar contains an entry for this variant (Variation ID: 189026). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000169415 | SCV001163066 | pathogenic | Autosomal recessive polycystic kidney disease | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002498843 | SCV002805008 | pathogenic | Polycystic kidney disease 4 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Center for Personalized Medicine, |
RCV003156078 | SCV003845331 | pathogenic | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002498843 | SCV004202273 | pathogenic | Polycystic kidney disease 4 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000169415 | SCV002081077 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-11-12 | no assertion criteria provided | clinical testing |