Submissions for variant NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)

dbSNP: rs1085307608

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000489991	SCV000576831	pathogenic	not provided	2024-09-17	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 38073514, 12544472, 26443184, 16152640, 20179744, 26747767, 32427345, 20513134, 34611315, 22496037)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000489991	SCV001200629	pathogenic	not provided	2024-11-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg533*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). 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 premature translational stop signal has been observed in individuals with Stickler syndrome or early onset high myopia (PMID: 12544472, 22496037, 26747767). ClinVar contains an entry for this variant (Variation ID: 426404). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279261	SCV002567204	pathogenic	Connective tissue disorder	2019-12-12	criteria provided, single submitter	clinical testing
Center of Medical Genetics, Central South University	RCV002286574	SCV002576562	pathogenic	Stickler syndrome type 1	2022-07-01	criteria provided, single submitter	research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV002286574	SCV004175728	pathogenic	Stickler syndrome type 1	2023-12-12	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000489991	SCV001959038	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000489991	SCV001964646	pathogenic	not provided		no assertion criteria provided	clinical testing
Department of Genetics, Beijing BioBiggen Technology Co., Ltd.	RCV002264702	SCV002546556	pathogenic	Heart, malformation of; Micrognathia	2022-06-29	no assertion criteria provided	research
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University	RCV003155213	SCV003844098	pathogenic	See cases	2021-07-06	no assertion criteria provided	research