Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175244 | SCV000226693 | pathogenic | not provided | 2012-11-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV000175244 | SCV001422376 | pathogenic | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Victorian Clinical Genetics Services, |
RCV002470759 | SCV002768833 | likely pathogenic | Polycystic kidney disease 4 | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as 4-Likely Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 4, with or without hepatic disease (MIM#263200). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0311 - An alternative nucleotide change at the same canonical splice site, is present in gnomAD (v2) at a frequency of 0.00003 (c.1602+1delG: 1 heterozygotes, 0 homozygotes). (I) 0508 - In silico predictions for abnormal splicing are inconclusive. (I) 0705 - No comparable canonical splice site variants have previous evidence for pathogenicity. (I) 0803 - This variant has limited previous evidence of pathogenicity in unrelated individuals. This variant has been reported in two individuals (ClinVar). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Baylor Genetics | RCV002470759 | SCV004204621 | pathogenic | Polycystic kidney disease 4 | 2023-06-28 | criteria provided, single submitter | clinical testing |