Submissions for variant NM_001379500.1(COL18A1):c.3317G>A (p.Arg1106Gln)

gnomAD frequency: 0.00003  dbSNP: rs752092795

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University of Leipzig Medical Center	RCV001724767	SCV001950055	uncertain significance	Knobloch syndrome	2021-08-26	criteria provided, single submitter	clinical testing	This variant was identified as compound heterozygous with NM_130444.3:c.4546_4547delinsTG.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002032667	SCV002288919	uncertain significance	not provided	2023-10-03	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1103 of the COL18A1 protein (p.Arg1103Gln). This variant is present in population databases (rs752092795, gnomAD 0.08%). 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: 1297031). 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.