ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val)

gnomAD frequency: 0.00001  dbSNP: rs757670001
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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 RCV002043538 SCV002315703 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1092 of the COL4A1 protein (p.Met1092Val). This variant is present in population databases (rs757670001, 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: 1518720). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002492388 SCV002789842 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 2022-04-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002043538 SCV004235405 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing

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