ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.738G>C (p.Glu246Asp)

gnomAD frequency: 0.00010  dbSNP: rs151224348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769819 SCV002004739 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001769819 SCV003292437 uncertain significance not provided 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 247 of the COL4A6 protein (p.Glu247Asp). This variant is present in population databases (rs151224348, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with COL4A6-related conditions (PMID: 32483926). ClinVar contains an entry for this variant (Variation ID: 1317812). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt COL4A6 protein function with a negative predictive value of 80%. 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.

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