ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])

dbSNP: rs104886356
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991627 SCV001143248 pathogenic not provided 2019-06-04 criteria provided, single submitter clinical testing The variant disrupts a glycine residue in the canonical Gly-X-Y repeats of the triple helix domain, which are required for stability and structure of this protein. Therefore it is expected to severely affect the function of the protein. Found in at least one symptomatic patient, and not found in general population data.
Labcorp Genetics (formerly Invitae), Labcorp RCV000991627 SCV001492692 pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing This variant, c.2475_2483del, results in the deletion of 3 amino acid(s) of the COL4A5 protein (p.Pro826_Gly828del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with clinical features of Alport syndrome (PMID: 10094548, 31937884; Invitae). This variant is also known as 822delGPP. ClinVar contains an entry for this variant (Variation ID: 24527). This variant disrupts the triple helix domain of COL4A5. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL4A5, missense variants at these glycine residues are significantly enriched in individuals with disease (PMID: 23720012, 27627812) compared to the general population (ExAC). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000021406 SCV002802541 likely pathogenic X-linked Alport syndrome 2021-11-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000991627 SCV003917814 likely pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing COL4A5: PM2, PM4, PS4:Moderate, PP4
GenomeConnect - Invitae Patient Insights Network RCV000021406 SCV001749788 not provided X-linked Alport syndrome no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 11-22-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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