Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198548 | SCV001369526 | likely pathogenic | Polycystic kidney disease, adult type | 2019-08-30 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP4,PM5. |
Gene |
RCV001751364 | SCV001985757 | uncertain significance | not provided | 2019-10-03 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in a patient with polycystic kidney disease referred for genetic testing at GeneDx and in published literature (Carrera et al., 2016); This variant is associated with the following publications: (PMID: 27499327) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230645 | SCV003929094 | uncertain significance | not specified | 2023-04-13 | criteria provided, single submitter | clinical testing | Variant summary: PKD1 c.303C>G (p.Asn101Lys) results in a non-conservative amino acid change located in the PKD domain (IPR000601) of the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 219860 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.303C>G has been reported in the literature in individuals from Polycystic Kidney Disease cohorts, however without strong evidence for causality (example: Carrera_2016 and Hogan_2015). These report(s) do not provide unequivocal conclusions about association of the variant with Polycystic Kidney Disease 1. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic and as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |