ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del)

dbSNP: rs1294802953
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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 RCV002006838 SCV002294347 uncertain significance not provided 2024-11-27 criteria provided, single submitter clinical testing This variant, c.5003_5005del, results in the deletion of 1 amino acid(s) of the COL4A1 protein (p.Arg1668del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL4A1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002486664 SCV002776073 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 2021-12-07 criteria provided, single submitter clinical testing

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