Submissions for variant NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys)

dbSNP: rs146820102

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001351827	SCV001546329	uncertain significance	not provided	2022-10-17	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 453 of the TRAF3IP1 protein (p.Ser453Cys). This variant is present in population databases (rs146820102, gnomAD 0.3%). This missense change has been observed in individual(s) with asphyxiating thoracic dystrophy (PMID: 29068549). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 446658). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TRAF3IP1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Dan Cohn Lab, University Of California Los Angeles	RCV000516077	SCV000612076	pathogenic	Jeune thoracic dystrophy	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000516077	SCV001479955	likely pathogenic	Jeune thoracic dystrophy		no assertion criteria provided	research