ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp)

dbSNP: rs397514624
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050736 SCV002109858 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 538 of the COL4A1 protein (p.Arg538Trp). This variant is present in population databases (rs397514624, gnomAD 0.006%). 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: 1348007). 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.
Fulgent Genetics, Fulgent Genetics RCV002503356 SCV002789687 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 2024-06-15 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV003313241 SCV004012108 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2023-06-22 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002050736 SCV004135611 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing COL4A1: PM2

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