ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.566G>A (p.Cys189Tyr)

gnomAD frequency: 0.00001  dbSNP: rs750457485
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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 RCV000560180 SCV000636865 uncertain significance Danon disease 2022-03-26 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 463158). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is present in population databases (rs750457485, gnomAD 0.005%), including at least one homozygous and/or hemizygous individual. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 189 of the LAMP2 protein (p.Cys189Tyr).

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