Submissions for variant NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)

gnomAD frequency: 0.00058  dbSNP: rs35012272

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248974	SCV000308066	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000248974	SCV000525171	likely benign	not specified	2017-03-13	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680497	SCV000807878	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV000893948	SCV001037912	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000893948	SCV001143204	likely benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001110201	SCV001267605	benign	Stickler syndrome type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001110202	SCV001267606	likely benign	Type II Collagenopathies	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000680497	SCV002567160	likely benign	Connective tissue disorder	2019-05-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000893948	SCV004130674	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	COL2A1: BS1, BS2