ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.610A>C (p.Thr204Pro) (rs876657845)

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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 RCV000220438 SCV000271902 uncertain significance not specified 2015-07-16 criteria provided, single submitter clinical testing The p.Thr204Pro variant in LAMP2 has not been previously reported in individuals with cardiomyopathy or in large population studies. While computational predict ion tools and conservation analysis do not provide strong support for or against an impact to the protein, pathogenic missense variants in LAMP2 are exceedingly rare (nearly all the disease-causing variants cause a truncated or absent prote in). In summary, the clinical significance of the p.Thr204Pro variant is uncerta in.

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