Submissions for variant NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg)

gnomAD frequency: 0.00011  dbSNP: rs374321733

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001347335	SCV001541591	uncertain significance	not provided	2023-11-27	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1250 of the COL18A1 protein (p.Gly1250Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1043254). 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.
Fulgent Genetics, Fulgent Genetics	RCV002486419	SCV002783752	uncertain significance	Glaucoma, primary closed-angle; Knobloch syndrome 1	2022-01-17	criteria provided, single submitter	clinical testing