Submissions for variant NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)

gnomAD frequency: 0.00090  dbSNP: rs140368756

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755494	SCV000603128	uncertain significance	not provided	2018-01-02	criteria provided, single submitter	clinical testing	The c.2831C>T p.Pro944Leu variant (rs140368756), to our knowledge, is not reported in the medical literature or gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.3% (identified on 59 out of 23,816 chromosomes). The proline at position 944 is highly conserved, considering 12 species (Alamut v.2.10.0) and computational analyses of the effects of the p.Pro944Leu variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Pro944Leu variant cannot be predicted with certainty.
Eurofins Ntd Llc (ga)	RCV000508472	SCV000709249	likely benign	not specified	2017-06-08	criteria provided, single submitter	clinical testing
Invitae	RCV000755494	SCV001052949	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000755494	SCV001802810	likely benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902808	SCV004718430	likely benign	COL2A1-related condition	2019-08-28	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).