ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr)

dbSNP: rs1556078130
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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 RCV000559105 SCV000636862 uncertain significance Danon disease 2018-09-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a LAMP2-related disease. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 tolerated, but these predictions have not been confirmed by published functional studies. This sequence change replaces alanine with threonine at codon 405 of the LAMP2 protein (p.Ala405Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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