Submissions for variant NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)

gnomAD frequency: 0.00089  dbSNP: rs147127279

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000338962	SCV000472161	uncertain significance	Intellectual Disability, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000503076	SCV000597534	likely benign	not specified	2015-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317856	SCV000850286	uncertain significance	Inborn genetic diseases	2017-10-27	criteria provided, single submitter	clinical testing	The p.S1236R variant (also known as c.3708T>G), located in coding exon 23 of the TRAPPC9 gene, results from a T to G substitution at nucleotide position 3708. The serine at codon 1236 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is 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.
Invitae	RCV000913653	SCV001058806	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252372	SCV001428127	uncertain significance	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing