Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175518 | SCV001339124 | uncertain significance | not specified | 2020-03-23 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.1258G>C (p.Gly420Arg) results in a non-conservative amino acid change located in the PA14/GLEYA domain (IPR037524) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250464 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1258G>C 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 uncertain significance. |
Natera, |
RCV001833734 | SCV002081084 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-11-13 | no assertion criteria provided | clinical testing |