Submissions for variant NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)

gnomAD frequency: 0.00004  dbSNP: rs397516741

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037413	SCV000061070	likely benign	not specified	2012-04-11	criteria provided, single submitter	clinical testing	Ala100Val in 3 of LAMP2: This variant is not expected to have clinical significa nce because it has been previously reported in a phenotypically unaffected male who was hemizygous for this variant. Ala100Val in 3 of LAMP2 (allele frequency = n/a)
GeneDx	RCV000037413	SCV000724685	likely benign	not specified	2017-11-14	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.
Invitae	RCV001518789	SCV001727549	benign	Danon disease	2024-01-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001518789	SCV002798471	likely benign	Danon disease	2021-08-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003436925	SCV004165449	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	LAMP2: BP4, BS2