Submissions for variant NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)

gnomAD frequency: 0.00045  dbSNP: rs149276836

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000724029	SCV000207900	benign	not provided	2020-11-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724029	SCV000228980	uncertain significance	not provided	2014-07-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079583	SCV000760120	benign	Danon disease	2025-01-20	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798529	SCV002043170	benign	Cardiomyopathy	2020-09-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354387	SCV002622902	likely benign	Cardiovascular phenotype	2018-10-08	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.
PreventionGenetics, part of Exact Sciences	RCV003952793	SCV004773388	likely benign	LAMP2-related disorder	2022-07-31	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).