Submissions for variant NM_004239.4(TRIP11):c.107A>T (p.Asp36Val)

gnomAD frequency: 0.00026  dbSNP: rs186074112

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000892129	SCV000389603	benign	Achondrogenesis, type IA	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000604722	SCV000728763	likely benign	not specified	2017-12-18	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	RCV000892129	SCV001035987	benign	Achondrogenesis, type IA	2023-12-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278420	SCV002567043	likely benign	Connective tissue disorder	2022-02-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504082	SCV002811364	likely benign	Achondrogenesis, type IA; Goldblatt syndrome	2021-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950072	SCV004762560	benign	TRIP11-related condition	2019-03-18	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).