Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781724 | SCV000919993 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2018-02-26 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.10744G>T (p.Glu3582X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position has been classified as pathogenic by our laboratory (c.11314C>T (p.Arg3772X)). The variant allele was found at a frequency of 4.1e-06 in 245594 control chromosomes. To our knowledge, no occurrence of c.10744G>T in individuals affected with Polycystic Kidney and Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Fulgent Genetics, |
RCV002501020 | SCV002796046 | likely pathogenic | Polycystic kidney disease 4 | 2022-01-18 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000781724 | SCV002075502 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-03-16 | no assertion criteria provided | clinical testing |