Submissions for variant NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)

gnomAD frequency: 0.00147  dbSNP: rs140157207

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002312419	SCV000846832	uncertain significance	Inborn genetic diseases	2020-03-26	criteria provided, single submitter	clinical testing	The p.V1239M variant (also known as c.3715G>A), located in coding exon 23 of the TRAPPC9 gene, results from a G to A substitution at nucleotide position 3715. The valine at codon 1239 is replaced by methionine, an amino acid with highly similar 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.
Invitae	RCV000897794	SCV001041958	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816749	SCV002067804	uncertain significance	not specified	2019-11-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980334	SCV004798770	likely benign	TRAPPC9-related condition	2022-04-12	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).