ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp)

dbSNP: rs1425028482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001248777 SCV001422286 likely pathogenic Benign familial hematuria 2020-02-19 criteria provided, single submitter clinical testing
Invitae RCV003669213 SCV004397128 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 972685). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 885 of the COL4A4 protein (p.Gly885Asp).

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