ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.684del (p.Phe228fs)

dbSNP: rs770074196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668588 SCV000793215 pathogenic Lysosomal acid lipase deficiency 2017-08-04 criteria provided, single submitter clinical testing
Invitae RCV001376570 SCV001200176 pathogenic Wolman disease 2023-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe228Leufs*13) in the LIPA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). This variant is present in population databases (rs770074196, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with cholesteryl ester storage disease (PMID: 10562460, 10627498). ClinVar contains an entry for this variant (Variation ID: 553192). 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 LIPA function (PMID: 29196158). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000668588 SCV001453546 pathogenic Lysosomal acid lipase deficiency 2020-09-16 no assertion criteria provided clinical testing

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