Submissions for variant NM_001136472.2(LITAF):c.274A>G (p.Ile92Val)

gnomAD frequency: 0.15945  dbSNP: rs4280262

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000576745	SCV000394833	benign	Charcot-Marie-Tooth disease type 1C	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000576745	SCV000677254	benign	Charcot-Marie-Tooth disease type 1C	2017-04-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000595000	SCV000705488	benign	not specified	2017-03-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000576745	SCV000884078	benign	Charcot-Marie-Tooth disease type 1C	2024-11-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576745	SCV001000463	benign	Charcot-Marie-Tooth disease type 1C	2025-02-04	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV000790000	SCV001337365	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
GeneDx	RCV001535377	SCV001752391	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25342198, 24668782)
Breakthrough Genomics, Breakthrough Genomics	RCV001535377	SCV005289644	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000576745	SCV000733483	benign	Charcot-Marie-Tooth disease type 1C		no assertion criteria provided	clinical testing
Inherited Neuropathy Consortium	RCV000790000	SCV000929389	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000595000	SCV001917091	benign	not specified		no assertion criteria provided	clinical testing