ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg)

gnomAD frequency: 0.00001  dbSNP: rs779129339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090432 SCV001245976 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001090432 SCV003921575 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30840888)
Invitae RCV001090432 SCV004535372 uncertain significance not provided 2023-07-28 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 not expected to disrupt COL4A1 protein function. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 113 of the COL4A1 protein (p.Gln113Arg). This variant is present in population databases (rs779129339, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 870805).

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