Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000505957 | SCV000604806 | pathogenic | not specified | 2017-03-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001535870 | SCV001752489 | pathogenic | Polycystic kidney disease, adult type | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002274047 | SCV002559663 | pathogenic | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation and 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: 22508176, 31740684, 27499327) |
Ambry Genetics | RCV002527367 | SCV003582468 | pathogenic | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.2152C>T (p.Q718*) alteration, located in exon 11 (coding exon 11) of the PKD1 gene, consists of a C to T substitution at nucleotide position 2152. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 718. 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 reported in several individuals with autosomal dominant polycystic kidney disease (Audrézet, 2012; Carrera, 2016; Kim, 2019). Based on the available evidence, this alteration is classified as pathogenic. |