Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666567 | SCV000790877 | likely pathogenic | Autosomal recessive Alport syndrome | 2017-04-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710841 | SCV000841146 | pathogenic | not provided | 2018-06-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710841 | SCV001236856 | pathogenic | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 897 of the COL4A4 protein (p.Gly897Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Alport syndrome (PMID: 8787673, 26809805). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17406). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL4A4 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Centre for Mendelian Genomics, |
RCV000018949 | SCV001370024 | likely pathogenic | Benign familial hematuria | 2018-12-10 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3. |
Institute Of Human Genetics Munich, |
RCV000018949 | SCV002765003 | likely pathogenic | Benign familial hematuria | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496409 | SCV002807505 | pathogenic | Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-11-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018949 | SCV000039236 | pathogenic | Benign familial hematuria | 1996-09-01 | no assertion criteria provided | literature only | |
Genome Diagnostics Laboratory, |
RCV000710841 | SCV001928919 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000710841 | SCV001956583 | pathogenic | not provided | no assertion criteria provided | clinical testing |