ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.1117G>A (p.Asp373Asn) (rs727503117)

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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 RCV000150910 SCV000198517 uncertain significance not specified 2013-09-20 criteria provided, single submitter clinical testing The Asp373Asn variant in LAMP2 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. Importantly, however, pathogenic missense variants are very rare in the LAMP2 gene (most dise ase causing variants cause a loss of function). Additional information is needed to fully assess the clinical significance of the Asp373Asn variant.

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