ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala)

gnomAD frequency: 0.00002  dbSNP: rs991396612
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001318115 SCV001508804 uncertain significance Danon disease 2021-04-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 326 of the LAMP2 protein (p.Gly326Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. 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 has not been reported in the literature in individuals with LAMP2-related conditions. This variant is not present in population databases (ExAC no frequency).

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