ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.1193T>C (p.Ile398Thr) (rs727504625)

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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 RCV000155884 SCV000205595 uncertain significance not specified 2013-07-31 criteria provided, single submitter clinical testing The Ile398Thr variant in LAMP2 has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that th is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. Of note, pathogenic missense variants are very r are in the LAMP2 gene (most disease causing variants cause a truncated or absent protein).Additional information is needed to fully assess the clinical signific ance of this variant.

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