Submissions for variant NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)

gnomAD frequency: 0.00026  dbSNP: rs199768095

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001079434	SCV000389587	uncertain significance	Achondrogenesis, type IA	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000731242	SCV000859036	uncertain significance	not provided	2018-01-23	criteria provided, single submitter	clinical testing
Invitae	RCV001079434	SCV001121782	benign	Achondrogenesis, type IA	2024-01-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910187	SCV004725351	likely benign	TRIP11-related disorder	2019-06-13	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).