ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) (rs397516740)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037412 SCV000061069 pathogenic Danon disease 2015-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000157963 SCV000207898 pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing p.Trp98Ter (TGG>TAG): c.293 G>A in exon 3 of the LAMP2 gene (NM_002294.2). The Trp98Ter mutation in the LAMP2 gene has been reported previously in association with Danon disease (Fanin M et al., 2006; Boucek D et al., 2011; Miani D et al., 2012). Fanin et al. (2006) reported the Trp98Stop mutation in a male patient presenting with jaundice at age 12 who developed muscle weakness, Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy by his 20s. His mother, who was heterozygous for Trp98Stop, had a history of WPW, mild muscle weakness and hypertrophic cardiomyopathy progressing to heart failure with subsequent heart transplant by age 52. Additionally, skeletal muscle from this male patient demonstrated near absence of LAMP2 protein, while his mother's LAMP2 protein levels were not significantly different from controls, highlighting the variability between males who harbor hemizygous mutations and female heterozygous carriers (Fanin M et al., 2006). Moreover, the Trp98Stop mutation is predicted to cause loss of normal protein function either through premature protein truncation or nonsense-mediated mRNA decay. Therefore, Trp98Stop in the LAMP2 gene is interpreted to be a disease-causing mutation. The variant is found in HCM panel(s).
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000157963 SCV000925118 pathogenic not provided 2013-01-31 no assertion criteria provided provider interpretation

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