ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)

dbSNP: rs1559480099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001195695 SCV001366099 likely pathogenic Alport syndrome 2019-10-10 criteria provided, single submitter clinical testing
Invitae RCV001337907 SCV001531527 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1163 of the COL4A4 protein (p.Gly1163Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 930188). 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. 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.
Natera, Inc. RCV001195695 SCV002078873 uncertain significance Alport syndrome 2020-08-14 no assertion criteria provided clinical testing

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