Submissions for variant NM_001005373.4(LRSAM1):c.1860C>T (p.His620=)

gnomAD frequency: 0.00054  dbSNP: rs147734401

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000358488	SCV000477228	uncertain significance	Charcot-Marie-Tooth disease type 2	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000440342	SCV000521921	likely benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552204	SCV000652027	benign	Charcot-Marie-Tooth disease axonal type 2P	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411263	SCV002721899	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001700363	SCV004160737	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	LRSAM1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV001700363	SCV001919834	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700363	SCV001927299	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932515	SCV004753407	likely benign	LRSAM1-related disorder	2019-11-15	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).