ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)

dbSNP: rs1569369217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223077 SCV001395210 uncertain significance Danon disease 2019-10-09 criteria provided, single submitter clinical testing This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 272 of the LAMP2 protein (p.Leu272Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
GeneDx RCV002281174 SCV002569800 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30959184)

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