ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala)

gnomAD frequency: 0.00001  dbSNP: rs780287240
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373721 SCV001570453 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 94 of the COL4A3 protein (p.Gly94Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001831327 SCV002076376 uncertain significance Alport syndrome 2020-04-20 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003963246 SCV004782139 uncertain significance COL4A3-related disorder 2024-01-11 no assertion criteria provided clinical testing The COL4A3 c.281G>C variant is predicted to result in the amino acid substitution p.Gly94Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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