Submissions for variant NM_173630.4(RTTN):c.2990C>T (p.Ala997Val)

gnomAD frequency: 0.00255  dbSNP: rs143471549

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118203	SCV000152562	uncertain significance	not provided	2013-10-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000118203	SCV001937784	benign	not provided	2021-01-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000118203	SCV002344534	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019648	SCV005014900	uncertain significance	Inborn genetic diseases	2024-01-03	criteria provided, single submitter	clinical testing	The c.2990C>T (p.A997V) alteration is located in exon 24 (coding exon 24) of the RTTN gene. This alteration results from a C to T substitution at nucleotide position 2990, causing the alanine (A) at amino acid position 997 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003952577	SCV004772203	benign	RTTN-related disorder	2019-12-18	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).