Submissions for variant NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)

gnomAD frequency: 0.00072  dbSNP: rs139631202

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192374	SCV000249197	uncertain significance	not specified	2015-01-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000271592	SCV000472220	uncertain significance	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV000677118	SCV000803190	uncertain significance	Intellectual disability, autosomal recessive 13	2018-07-03	criteria provided, single submitter	research
Ambry Genetics	RCV002317716	SCV000850496	uncertain significance	Inborn genetic diseases	2017-02-18	criteria provided, single submitter	clinical testing	The p.S186L variant (also known as c.557C>T), located in coding exon 2 of the TRAPPC9 gene, results from a C to T substitution at nucleotide position 557. The serine at codon 186 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV000677118	SCV000895882	uncertain significance	Intellectual disability, autosomal recessive 13	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894194	SCV001038164	likely benign	not provided	2024-01-21	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000677118	SCV001525839	uncertain significance	Intellectual disability, autosomal recessive 13	2018-07-31	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000894194	SCV001789108	uncertain significance	not provided	2024-08-30	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity	RCV000677118	SCV003823447	uncertain significance	Intellectual disability, autosomal recessive 13	2020-04-18	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252376	SCV001428131	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967506	SCV004787294	likely benign	TRAPPC9-related disorder	2022-11-01	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).