ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)

dbSNP: rs773317939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089918 SCV001245151 likely pathogenic Autosomal dominant Alport syndrome; Benign familial hematuria 2020-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862664 SCV002307111 uncertain significance not provided 2021-08-28 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 COL4A3 protein function. ClinVar contains an entry for this variant (Variation ID: 870361). This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 736 of the COL4A3 protein (p.Gly736Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.

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