ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.158G>A (p.Arg53His) (rs397516735)

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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 RCV000037406 SCV000061063 uncertain significance not specified 2012-10-03 criteria provided, single submitter clinical testing The Arg53His variant in LAMP2 has not been reported in the literature nor previo usly identified by our laboratory. The affected amino acid is poorly conserved i n evolution, suggesting that a change at this position would be tolerated. In ad dition, pathogenic missense variants in LAMP2 are exceedingly rare. In summary, this variant is less likely disease causing but additional information is neede d to establish its role with confidence.

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