ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)

dbSNP: rs2069931154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198066 SCV001368851 uncertain significance Autosomal dominant Alport syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560244 SCV003340442 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 931485). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 236 of the COL4A3 protein (p.Gly236Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A3-related conditions.

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