Submissions for variant NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr)

gnomAD frequency: 0.00624  dbSNP: rs34989098

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118223	SCV000152582	likely benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224256	SCV000281393	likely benign	not provided	2015-10-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000224256	SCV000526492	likely benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000679856	SCV000807206	uncertain significance	Microcephalic primordial dwarfism due to RTTN deficiency	2017-09-01	criteria provided, single submitter	clinical testing	Possible pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 3-year-old female with microcephaly, craniosynostosis, dysmorphisms, fused labia, absence seizures, failure to thrive. However, allele frequency is high, and homozygotes have been found in controls.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224256	SCV001105284	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224256	SCV001501206	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	RTTN: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003915167	SCV004729291	benign	RTTN-related disorder	2022-09-12	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).