ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.158G>A (p.Arg53His)

gnomAD frequency: 0.00005  dbSNP: rs397516735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521516 SCV001730876 benign Danon disease 2023-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399374 SCV002708964 benign Cardiovascular phenotype 2018-12-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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