ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) (rs104894857)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000010662 SCV000760110 pathogenic Danon disease 2017-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln174*) in the LAMP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in one individual affected with Danon disease (PMID: 15253947) and to segregate with disease in one family (PMID: 27678261). ClinVar contains an entry for this variant (Variation ID: 9981). Functional studies performed with IPSC-CMs derived from individuals with this variant have shown that this missense change impairs autophagy and calcium handling ability (PMID: 27678261). Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000010662 SCV000030888 pathogenic Danon disease 2004-08-01 no assertion criteria provided literature only

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