Submissions for variant NM_007118.4(TRIO):c.2105C>T (p.Ser702Leu)

gnomAD frequency: 0.00001  dbSNP: rs1487014323

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001797030	SCV002038558	uncertain significance	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	2021-06-09	criteria provided, single submitter	clinical testing	The TRIO c.2105C>T (p.Ser702Leu) variant is a missense variant. A literature search was conducted for the gene, cDNA change, and amino acid change. No publications were identified through this search. This variant is reported at a frequency of 0.000065 in the European (non-Finnish) population of the Genome Aggregation Database (version 2.1.1), but this frequency is based on one allele only in a region of good sequencing coverage, so the variant is presumed rare. In silico algorithms differ in their predictions for this variant, which is not located in a known protein domain. Based on the limited available evidence and the application of ACMG criteria, the p.Ser702Leu variant is classified as a variant of uncertain significance for TRIO-related intellectual disability.
GeneDx	RCV004728821	SCV005333304	uncertain significance	not provided	2024-02-28	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; This variant is associated with the following publications: (PMID: 36937954)
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV003154196	SCV003803003	pathogenic	Developmental delay		no assertion criteria provided	clinical testing