Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252377 | SCV000305687 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000712585 | SCV000843101 | benign | not provided | 2018-04-06 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001863 | SCV001159580 | benign | Polycystic kidney disease, adult type | 2019-05-24 | criteria provided, single submitter | clinical testing | |
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV001254184 | SCV001430157 | benign | Autosomal dominant polycystic kidney disease | 2019-01-01 | criteria provided, single submitter | research | |
Gene |
RCV000712585 | SCV001817579 | likely benign | not provided | 2022-01-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 11967008, 10987650, 10200984) |
Ce |
RCV000712585 | SCV004010436 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | PKD1: BP4, BP7, BS2 |
Department of Pathology and Laboratory Medicine, |
RCV001292420 | SCV001480873 | likely benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Ala3992Ala variant was identified in 4 of 732 proband chromosomes (frequency: 0.005) from individuals or families with ADPKD (Badenas 1999, Perrichot 1999, Rossetti 2002). The variant was also identified in dbSNP (ID: rs112387277) as “With Likely benign allele”, Clinvitae (classified as likely benign), ClinVar (classified as likely benign by Prevention Genetics), ADPKD Mutation Database (classified as likely neutral), the 1000 Genomes Project in 4 of 5000 chromosomes (frequency: 0.0008), the NHLBI GO Exome Sequencing Project in 29 of 8486 European American and in 1 of 4288 African American alleles, the Exome Aggregation Consortium database (August 8th 2016) in 262 (1 homozygous) of 59468 chromosomes (freq. 0.004) in the following populations: European in 196 of 31204 chromosomes (freq. 0.006), Asian in 30 of 11894 chromosomes (freq. 0.003), Latino in 21 of 5190 chromosomes (freq. 0.004), Finnish in 8 of 2492 chromosomes (freq. 0.003), African in 7 of 4082 chromosomes (freq. 0.002), increasing the likelihood this could be a low frequency benign variant. The p.Ala3992Ala 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. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. 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, |
RCV000712585 | SCV001932690 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000712585 | SCV001968741 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000712585 | SCV002036651 | likely benign | not provided | no assertion criteria provided | clinical testing |