ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter)

dbSNP: rs876657648
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219626 SCV000271235 likely pathogenic Danon disease 2018-05-02 criteria provided, single submitter clinical testing The p.Tyr304X variant in LAMP2 has not been previously reported in individuals w ith cardiomyopathy or Danon disease and was absent from large population studies . This nonsense variant leads to a premature termination codon at position 304, which is predicted to lead to a truncated or absent protein. Nonsense and other loss of function variants in LAMP2 are associated with Danon disease. In summary , although additional studies are required to fully establish its clinical signi ficance, the p.Tyr304X variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM2.

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