ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.602T>C (p.Ile201Thr) (rs876657844)

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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 RCV000216028 SCV000271901 uncertain significance not specified 2015-07-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile201Thr var iant in LAMP2 has not been previously reported in individuals with cardiomyopath y or in large population studies. Pathogenic missense variants in LAMP2 are exce edingly rare (nearly all the disease-causing variants cause a truncated or absen t protein). In addition, computational prediction tools and conservation analys is suggest that the p.Ile201Thr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ile201Thr variant is uncertain although it is sus pected to be more likely benign.

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