Submissions for variant NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)

gnomAD frequency: 0.00086  dbSNP: rs141862602

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000198589	SCV000253431	likely benign	Charcot-Marie-Tooth disease type 1C	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001705150	SCV000292597	likely benign	not provided	2020-02-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25058650, 15776429, 16373087, 23576546, 28211240, 16775366, 16877806, 26220970, 32376792)
Illumina Laboratory Services, Illumina	RCV000198589	SCV001277381	uncertain significance	Charcot-Marie-Tooth disease type 1C	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV000789999	SCV001337359	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390528	SCV002701275	benign	Inborn genetic diseases	2021-12-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001705150	SCV004141156	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	LITAF: BS1
Inherited Neuropathy Consortium	RCV000789999	SCV000929388	likely pathogenic	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only