Submissions for variant NM_002294.3(LAMP2):c.-7C>T

gnomAD frequency: 0.00004  dbSNP: rs762305947

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780373	SCV000917573	uncertain significance	not specified	2018-01-22	criteria provided, single submitter	clinical testing	Variant summary: The LAMP2 c.-7C>T variant located in the 5' UTR involves the alteration of a non-conserved nucleotide. This variant was found in 2/177283 control chromosomes (gnomAD) at a frequency of 0.0000113, which does not exceed the estimated maximal expected allele frequency of a pathogenic LAMP2 variant (0.0000125). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
GeneDx	RCV001536931	SCV001753747	benign	not provided	2015-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003892701	SCV004712944	likely benign	LAMP2-related disorder	2020-10-11	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).