ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)

gnomAD frequency: 0.00001  dbSNP: rs121912860
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Total submissions: 9
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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 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, University Medical Centre Ljubljana 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, Klinikum Rechts Der Isar, TU München RCV000018949 SCV002765003 likely pathogenic Benign familial hematuria 2022-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, 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, University Medical Center Utrecht RCV000710841 SCV001928919 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000710841 SCV001956583 pathogenic not provided no assertion criteria provided clinical testing

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