Submissions for variant NM_001852.4(COL9A2):c.364-16A>G

dbSNP: rs1979785

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514794	SCV000610240	uncertain significance	not provided	2017-06-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000610852	SCV000723372	likely benign	not specified	2017-09-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000514794	SCV001652125	likely benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000610852	SCV004122128	likely benign	not specified	2023-10-25	criteria provided, single submitter	clinical testing	Variant summary: COL9A2 c.364-16A>G alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00051 in 220972 control chromosomes. To our knowledge, no occurrence of c.364-16A>G in individuals affected with Epiphyseal dysplasia, multiple, 2 and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003902825	SCV004732344	likely benign	COL9A2-related condition	2023-12-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).