Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000338456 | SCV000451543 | uncertain significance | Polycystic kidney disease 2 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV001556063 | SCV001777577 | likely benign | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
| Fulgent Genetics, |
RCV000338456 | SCV002791524 | uncertain significance | Polycystic kidney disease 2 | 2021-12-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002523490 | SCV002931428 | likely benign | Autosomal dominant polycystic kidney disease | 2023-12-10 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV000499413 | SCV000592871 | likely benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD2 p.Arg119His variant was identified in 2 of 460 proband chromosomes (frequency: 0.004) from individuals or families with ADPKD (Rossetti 2012).The variant was also identified ADPKD Mutation Database (classified as likely neutral). The variant was not identified in dbSNP, Clinvitae, the ClinVar, GeneInsight COGR and PKD2-LOVD databases. The p.Arg119 residue is conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein. The variant occurs outside of the splicing consensus sequence and 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. |