Submissions for variant NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)

gnomAD frequency: 0.00027  dbSNP: rs201151358

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524706	SCV000629388	benign	Spastic paraplegia	2024-03-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314948	SCV000848965	benign	Inborn genetic diseases	2017-02-06	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.
GeneDx	RCV001653889	SCV001869658	benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26891472, 19846429)
Athena Diagnostics	RCV001662537	SCV001879554	benign	not specified	2021-04-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002497076	SCV002805404	likely benign	MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome	2021-07-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960269	SCV004768684	likely benign	L1CAM-related disorder	2023-12-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).