ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg)

dbSNP: rs104894859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000010664 SCV003445839 uncertain significance Danon disease 2022-03-31 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 9983). This missense change has been observed in individual(s) with clincial features of Danon disease (PMID: 15907287). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 321 of the LAMP2 protein (p.Trp321Arg).
OMIM RCV000010664 SCV000030890 pathogenic Danon disease 2005-06-01 no assertion criteria provided literature only

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