Submissions for variant NM_002294.3(LAMP2):c.771T>C (p.Asn257=)

gnomAD frequency: 0.00005  dbSNP: rs138435481

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420008	SCV000521767	likely benign	not specified	2015-12-04	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.
Ambry Genetics	RCV002402142	SCV002669909	likely benign	Cardiovascular phenotype	2022-10-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002521594	SCV003499361	likely benign	Danon disease	2023-05-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897871	SCV004711370	likely benign	LAMP2-related disorder	2021-10-27	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).