Submissions for variant NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del)

dbSNP: rs730880494

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000157987	SCV000207922	uncertain significance	not provided	2016-06-28	criteria provided, single submitter	clinical testing	The c.1117_1119delGAC variant has been reported previously in a male patient with accessory atrioventricular connection and it also was identified in his unaffected mother and brother (Esposito G et al., 2009). The authors hypothesized that the loss of the Aspartic Acid residue at this position (the P5 substrate position") might be critical for proteolytic regulation of LAMP-2. Additionally, it was not identified in 600 control chromosomes from Caucasian individuals, indicating it is not a common benign variant in this population. However, the lack of segregation with a disease phenotype in the published family suggests further studies are needed to determine the pathogenic role of this variant. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant."
Invitae	RCV001401384	SCV001603207	likely benign	Danon disease	2023-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945250	SCV004769809	likely benign	LAMP2-related condition	2020-09-05	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).