Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000243588 | SCV000303530 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000756538 | SCV000658969 | benign | Autosomal dominant polycystic kidney disease | 2024-01-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000999906 | SCV000884373 | likely benign | Polycystic kidney disease 2 | 2019-12-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000999906 | SCV001316014 | likely benign | Polycystic kidney disease 2 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV001561555 | SCV001784181 | likely benign | not provided | 2021-09-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24658975) |
Athena Diagnostics Inc | RCV000243588 | SCV001879469 | benign | not specified | 2021-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001561555 | SCV004152958 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | PKD2: BP4, BP7, BS1 |
Department of Pathology and Laboratory Medicine, |
RCV001291924 | SCV000592880 | likely benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD2 p.Ala610Ala variant was identified in dbSNP (ID: rs144968710) as “N/A”, ADPKD Mutation Database (likely neutral), 1000 Genomes Project in 8 of 5000 chromosomes (frequency: 0.002), NHLBI GO Exome Sequencing Project in 8 of 8600 European American and in 10 of 4406 African American alleles, the Exome Aggregation Consortium database (August 8, 2016) in 94 of 121226 chromosomes (freq. 0.0008) in the following populations: European in 39 of 66662 chromosomes (freq. 0.0006), African in 19 of 10406 chromosomes (freq. 0.002), South Asian in 19 of 16482 chromosomes (freq. 0.001), Latino in 12 of 11560 chromosomes (freq. 0.001), Finish in 3 of 6600 chromosomes (freq. 0.0005), Other 2 in 906 chromosomes (freq. 0.002), increasing the likelihood this could be a low frequency benign variant. The p.Ala610Ala variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The variant occurs outside of the splicing consensus sequence and 3 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. | |
Genome Diagnostics Laboratory, |
RCV000243588 | SCV001978270 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001561555 | SCV001980428 | likely benign | not provided | no assertion criteria provided | clinical testing |