ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)

dbSNP: rs1348341976
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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 RCV002007761 SCV002260790 uncertain significance not provided 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1233 of the COL4A1 protein (p.Gly1233Glu). This variant is not present in population databases (gnomAD no frequency). 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: 1474956). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV003493901 SCV004242427 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2022-08-23 criteria provided, single submitter clinical testing
GeneDx RCV002007761 SCV005440886 likely pathogenic not provided 2024-06-25 criteria provided, single submitter clinical testing Identified in a patient with pediatric epilepsy, chronic migraines, exertional weakness, sensory disturbance, and white matter signal abnormalities on brain MRI; the patient's daughter had autism, seizures, and similar brain findings (PMID: 38074064); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 38074064)

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