Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171505 | SCV000568822 | pathogenic | not provided | 2024-02-06 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in patients with autosomal recessive Alport syndrome when present in the homozygous state or when in trans with another disease-causing variant; heterozygous family members have considerable phenotypic variability, ranging from intermittent hematuria to late onset end stage renal disease (PMID: 23551117, 24398087); This variant is associated with the following publications: (PMID: 24398087, 23551117, 36177613, 32647767) |
3billion | RCV001808445 | SCV002058910 | pathogenic | Autosomal recessive Alport syndrome | 2022-01-03 | criteria provided, single submitter | clinical testing | Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000191313, PMID:23551117). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Center for Genomic Medicine, |
RCV001808445 | SCV004807138 | uncertain significance | Autosomal recessive Alport syndrome | 2024-03-26 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000171505 | SCV005413559 | pathogenic | not provided | 2023-09-26 | criteria provided, single submitter | clinical testing | PP1_strong, PM2, PM3, PS4_moderate, PVS1 |
Center for Genomic Medicine, |
RCV000171505 | SCV000221704 | likely pathogenic | not provided | flagged submission | research |