ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)

gnomAD frequency: 0.00002  dbSNP: rs781134467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208370 SCV001379753 uncertain significance Danon disease 2020-05-05 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LAMP2-related conditions. This variant is present in population databases (rs781134467, ExAC 0.006%). This sequence change replaces glycine with arginine at codon 360 of the LAMP2 protein (p.Gly360Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

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