ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)

dbSNP: rs1556101420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578815 SCV000680954 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing The Q240X variant in the LAMP2 gene has been reported previously in a male with mild skeletal weakness, elevated creatine kinase, Wolff-Parkinson-White syndrome and hypertrophic cardiomyopathy. This variant was also present in his asymptomatic mother and clinically asymptomatic sister who was found to have elevated creatine kinase and mild left ventricular hypertrophy (Fu et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q240X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q240X as a pathogenic variant
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001783080 SCV002764772 pathogenic Danon disease 2021-04-28 criteria provided, single submitter clinical testing

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