Submissions for variant NM_015650.4(TRAF3IP1):c.1368-1del

gnomAD frequency: 0.00003  dbSNP: rs764906529

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003727754	SCV004540543	likely pathogenic	not provided	2023-12-18	criteria provided, single submitter	clinical testing	This sequence change affects a splice site in intron 11 of the TRAF3IP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TRAF3IP1 are known to be pathogenic (PMID: 21945076, 26487268, 29068549). This variant is present in population databases (rs764906529, gnomAD 0.05%). Disruption of this splice site has been observed in individual(s) with asphyxiating thoracic dystrophy (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446657). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Dan Cohn Lab, University Of California Los Angeles	RCV000515940	SCV000612075	pathogenic	Jeune thoracic dystrophy	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000515940	SCV001479590	likely pathogenic	Jeune thoracic dystrophy		no assertion criteria provided	research