Submissions for variant NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)

gnomAD frequency: 0.00189  dbSNP: rs144662546

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192636	SCV000247829	uncertain significance	not specified	2015-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000766665	SCV000617187	uncertain significance	not provided	2022-11-09	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000766665	SCV001068447	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002252047	SCV002523558	likely benign	See cases	2020-02-22	criteria provided, single submitter	clinical testing	ACMG classification criteria: BP1, BP4
Ambry Genetics	RCV002517945	SCV003733560	likely benign	Inborn genetic diseases	2022-05-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003937696	SCV004764286	likely benign	LAMC3-related condition	2019-11-11	criteria provided, single submitter	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).