ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.533A>C (p.Gln178Pro)

dbSNP: rs775432228
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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 RCV002037425 SCV002115568 uncertain significance Danon disease 2021-01-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LAMP2-related conditions. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs775432228, ExAC 0.01%). This sequence change replaces glutamine with proline at codon 178 of the LAMP2 protein (p.Gln178Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline.

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