ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser)

gnomAD frequency: 0.00002  dbSNP: rs1057518766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198208 SCV001369078 likely pathogenic Glaucoma, primary closed-angle 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Invitae RCV001865298 SCV002139430 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1007 of the COL18A1 protein (p.Gly1007Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of COL18A1-related conditions (PMID: 31623504). This variant is also known as p.Gly1187Ser. ClinVar contains an entry for this variant (Variation ID: 373915). 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415411 SCV000492543 likely pathogenic Progressive neurodegenerative disease 2016-03-24 no assertion criteria provided clinical testing

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