Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000507327 | SCV000604836 | benign | not specified | 2017-03-25 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001155351 | SCV001316775 | uncertain significance | Polycystic kidney disease 2 | 2017-04-27 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Gene |
RCV001561763 | SCV001784420 | likely benign | not provided | 2020-01-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002056911 | SCV002408229 | benign | Autosomal dominant polycystic kidney disease | 2023-12-19 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001292346 | SCV001480701 | likely benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD2 c.595+15C>T variant was not identified in the literature nor was it identified in the LOVD 3.0, ADPKD Mutation Database and PKD2-LOVD databases. It was identified in dbSNP (ID: rs559555727) as "With Benign Allele" and ClinVar (classified as 1x Benign by ARUP Laboratories). The variant was also identified in control databases in 156 of 138366 chromosomes (1 homozygous) at a frequency of 0.001 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 1 of 3982 chromosomes (freq: 0.0003), Latino in 1 of 21870 chromosomes (freq: 0.00005), European in 2 of 54006 chromosomes (freq: 0.00004), East Asian in 150 of 9980 chromosomes (freq: 0.02), and South Asian in 2 of 20178 chromosomes (freq: 0.0001), while the variant was not observed in the African, Ashkenazi Jewish and Finnish populations. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) 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. |