Submissions for variant NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His)

gnomAD frequency: 0.00001  dbSNP: rs370102608

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001339737	SCV001533503	uncertain significance	not provided	2023-12-18	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1124 of the COL18A1 protein (p.Arg1124His). This variant is present in population databases (rs370102608, gnomAD 0.03%). 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: 1036690). 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001339737	SCV001797602	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001339737	SCV001965353	likely benign	not provided		no assertion criteria provided	clinical testing