ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3847G>T (p.Gly1283Trp)

dbSNP: rs1085307935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489683 SCV000577689 likely pathogenic not provided 2015-07-13 criteria provided, single submitter clinical testing The G1280W variant in the COL18A1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The G1280W variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G1280W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The G1280W variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded
Labcorp Genetics (formerly Invitae), Labcorp RCV000489683 SCV002168937 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 1280 of the COL18A1 protein (p.Gly1280Trp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 427063). 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.

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