ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.709A>G (p.Met237Val)

gnomAD frequency: 0.00001  dbSNP: rs746678211
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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 RCV001367974 SCV001564348 uncertain significance Danon disease 2020-08-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs746678211, ExAC 0.002%). This sequence change replaces methionine with valine at codon 237 of the LAMP2 protein (p.Met237Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant has not been reported in the literature in individuals with LAMP2-related conditions. 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"). 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.

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