Submissions for variant NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)

gnomAD frequency: 0.00069  dbSNP: rs199794705

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000334250	SCV000345415	uncertain significance	not provided	2016-08-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001791	SCV001159442	benign	Autosomal recessive nonsyndromic hearing loss 28	2018-08-01	criteria provided, single submitter	clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV001001791	SCV001984069	likely benign	Autosomal recessive nonsyndromic hearing loss 28	2020-02-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000334250	SCV002412581	benign	not provided	2023-12-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323498	SCV004028843	uncertain significance	not specified	2023-07-14	criteria provided, single submitter	clinical testing	Variant summary: TRIOBP c.2201C>T (p.Ser734Phe) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00082 in 249556 control chromosomes in the gnomAD database, including 1 homozygotes. To our knowledge, no occurrence of c.2201C>T in individuals affected with Autosomal Recessive Nonsyndromic Hearing Loss 28 and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign/likely benign (n=3) and VUS (n=1). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
PreventionGenetics, part of Exact Sciences	RCV003930190	SCV004745247	benign	TRIOBP-related disorder	2019-10-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).