ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.1020del (p.Gly341fs) (rs727504597)

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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 RCV000155777 SCV000205488 pathogenic Primary dilated cardiomyopathy; Danon disease 2013-06-12 criteria provided, single submitter clinical testing The Gly341fs variant in LAMP2 has not been reported in individuals with cardiomy opathy and data from large population studies is insufficient to assess its freq uency. This frameshift variant is predicted to alter the protein?s amino acid se quence beginning at position 341 and lead to a premature termination codon 5 ami no acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the LAMP2 gene is an established disease me chanism in Danon disease. In summary, this variant meets our criteria to be clas sified as pathogenic (http://pcpgm.partners.org/LMM) based upon its predicted im pact and established pathogenicity of this type of variant.

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