ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2092G>A (p.Gly698Arg)

gnomAD frequency: 0.00002  dbSNP: rs767150342
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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 RCV001322777 SCV001513664 uncertain significance not provided 2022-11-28 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1022823). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. This variant is present in population databases (rs767150342, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 698 of the COL18A1 protein (p.Gly698Arg).
Fulgent Genetics, Fulgent Genetics RCV002486288 SCV002790354 uncertain significance Glaucoma, primary closed-angle; Knobloch syndrome 1 2021-09-10 criteria provided, single submitter clinical testing
GeneDx RCV001322777 SCV005335079 uncertain significance not provided 2024-03-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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