ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter)

dbSNP: rs104894857
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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 RCV000010662 SCV000760110 pathogenic Danon disease 2023-01-04 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. Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Danon disease (PMID: 15253947, 27678261). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 9981). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects LAMP2 function (PMID: 27678261). 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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