ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.129C>G (p.Tyr43Ter)

dbSNP: rs121965087
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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 RCV000000102 SCV001406566 pathogenic Wolman disease 2019-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been reported to affect LIPA protein function (PMID: 29196158). This variant has been observed in an individual affected with Wolman disease (PMID: 8956047). This variant is also known as p.Tyr22X in the literature. ClinVar contains an entry for this variant (Variation ID: 82). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr43*) in the LIPA gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000000102 SCV000020245 pathogenic Wolman disease 1996-01-01 no assertion criteria provided literature only

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