ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2204G>C (p.Gly735Ala)

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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 RCV002786016 SCV003024996 uncertain significance not provided 2022-05-04 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. 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: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 735 of the COL4A1 protein (p.Gly735Ala).
Revvity Omics, Revvity RCV002786016 SCV004235399 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008751 SCV005632916 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2024-02-29 criteria provided, single submitter clinical testing

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