ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser)

dbSNP: rs1207197859
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340671 SCV001534494 uncertain significance Danon disease 2023-09-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1037507). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 185 of the LAMP2 protein (p.Asn185Ser).

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