Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788896 | SCV000928181 | likely pathogenic | not provided | 2019-01-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501033 | SCV002813894 | pathogenic | Polycystic kidney disease, adult type | 2022-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536909 | SCV003595768 | pathogenic | Inborn genetic diseases | 2021-12-27 | criteria provided, single submitter | clinical testing | The c.412C>T (p.R138*) alteration, located in exon 4 (coding exon 4) of the PKD1 gene, consists of a C to T substitution at nucleotide position 412. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 138. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This mutation has been identified in several individuals with polycystic kidney disease (Rossetti, 2007; Liu, 2015; Ottlewski, 2019; Schönauer, 2020). Based on the available evidence, this alteration is classified as pathogenic. |
Gene |
RCV000788896 | SCV003842921 | pathogenic | not provided | 2022-10-03 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17582161, 32472977, 34739738, 29860066, 31027891) |