Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411765 | SCV000485553 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-01-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000411765 | SCV000699844 | pathogenic | Autosomal recessive polycystic kidney disease | 2017-05-29 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.11314C>T (p.Arg3772X) 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 likely pathogenic in ClinVar (e.g. p.Arg3842Ter and c.11776delG (p.Val3926Trpfs)). This variant is absent in 121176 control chromosomes from ExAC. This variant has been reported in five patients from four ARPKD families (Bergmann_2004, Melchionda_2016; Li_2016), in homozygous state and in compound heterozygous state with known, c.9689delA (p.Asp3230fs) and presumably pathogenic, c.889T>A (p.Cys297Ser) variants. Parents were genotyped in both families and variant transmission in affected offspring's was consistent with disease inheritance. One clinical diagnostic laboratory has classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV000411765 | SCV000956252 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-11-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg3772*) 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 (rs199839578, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 15108281, 27225849, 27577217). ClinVar contains an entry for this variant (Variation ID: 370289). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002504202 | SCV002815484 | pathogenic | Polycystic kidney disease 4 | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002504202 | SCV004202242 | pathogenic | Polycystic kidney disease 4 | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000411765 | SCV002075487 | pathogenic | Autosomal recessive polycystic kidney disease | 2017-08-09 | no assertion criteria provided | clinical testing |