Submissions for variant NM_001375524.1(TRRAP):c.8770C>T (p.Arg2924Cys)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genomics Laboratory, Washington University in St. Louis	RCV004555908	SCV005045076	uncertain significance	Developmental delay with or without dysmorphic facies and autism	2024-02-20	criteria provided, single submitter	clinical testing	The TRRAP c.8770C>T (p.Arg2924Cys) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to TRRAP function. This variant has been reported in the ClinVar database as a somatic variant for teratoma by one submitter. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.
Molecular ImmunoRheumatology UMRS_1109, Institut national de la santé et de la recherche médicale	RCV003221372	SCV003915802	uncertain significance	Teratoma	2023-01-01	no assertion criteria provided	research