ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.1648A>G (p.Ser550Gly)

gnomAD frequency: 0.00004  dbSNP: rs146828247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002042348 SCV002108032 uncertain significance not provided 2023-03-18 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 not expected to disrupt COL4A6 protein function. ClinVar contains an entry for this variant (Variation ID: 1351079). This variant has not been reported in the literature in individuals affected with COL4A6-related conditions. This variant is present in population databases (rs146828247, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 551 of the COL4A6 protein (p.Ser551Gly).
PreventionGenetics, part of Exact Sciences RCV003948765 SCV004759320 likely benign COL4A6-related disorder 2022-02-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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