Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000407621 | SCV000428069 | uncertain significance | Alport syndrome | 2018-01-12 | 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 |
RCV001660696 | SCV001875206 | uncertain significance | not provided | 2023-03-29 | criteria provided, single submitter | clinical testing | Reported as heterozygous in patients with focal segmental glomerulosclerosis in published literature who also harbored variants in other collagen genes (Wang et al., 2017); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30968591, 32703181, 32332277, 28476686, 31328266) |
3billion | RCV002283476 | SCV002573136 | pathogenic | Autosomal recessive Alport syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.015%). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with COL4A4-related disorder (PMID: 28476686). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least 4 similarly affected unrelated individuals (PMID: 28476686 , 30968591 , 32332277 , 32703181). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Genome Diagnostics Laboratory, |
RCV002294291 | SCV002587173 | uncertain significance | Kidney disorder | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504132 | SCV002816780 | uncertain significance | Autosomal recessive Alport syndrome; Benign familial hematuria | 2022-04-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001660696 | SCV003522201 | benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000407621 | SCV002078861 | uncertain significance | Alport syndrome | 2020-01-16 | no assertion criteria provided | clinical testing |