Submissions for variant NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr)

gnomAD frequency: 0.00001  dbSNP: rs201112407

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001118737	SCV001277040	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001118737	SCV002433071	benign	Achondrogenesis, type IA	2023-07-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003283987	SCV003957966	uncertain significance	Inborn genetic diseases	2023-05-26	criteria provided, single submitter	clinical testing	The c.1432G>A (p.A478T) alteration is located in exon 10 (coding exon 10) of the TRIP11 gene. This alteration results from a G to A substitution at nucleotide position 1432, causing the alanine (A) at amino acid position 478 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV004706019	SCV005210819	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003906222	SCV004726315	likely benign	TRIP11-related disorder	2019-07-30	no assertion criteria provided	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).