ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.851_852del (p.Phe284fs) (rs727504648)

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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, Partners HealthCare Personalized Medicine RCV000155911 SCV000205622 pathogenic Danon disease 2013-11-08 criteria provided, single submitter clinical testing The Phe284fs variant in LAMP2 has not been reported in individuals with cardiomy opathy or Danon disease. Data from large population studies is insufficient to a ssess whether this variant is present in the general population. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at po sition 284 and lead to a premature termination codon 7 amino acids downstream. T his alteration is then predicted to lead to a truncated or absent protein (loss of function; LOF). Heterozygous loss of function of the LAMP2 gene is an establi shed disease mechanism in Danon disease. In summary, this variant meets our crit eria to be classified as pathogenic (http://pcpgm.partners.org/LMM) based on the predicted impact of the variant.

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