ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.1222C>G (p.Gln408Glu) (rs876657846)

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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 RCV000222752 SCV000271903 uncertain significance not specified 2018-05-02 criteria provided, single submitter clinical testing The p.Gln408Glu variant in LAMP2 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that this variant may not impact the prote in but these data are insufficient to rule out a role in disease. In summary, th e clinical significance of the p.Gln408Glu variant is uncertain. ACMG/AMP Criter ia applied: PM2; BP4.

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