ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.193C>T (p.Arg65Ter)

gnomAD frequency: 0.00004  dbSNP: rs779712562
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674535 SCV000799887 pathogenic Lysosomal acid lipase deficiency 2018-05-09 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760967 SCV000890864 pathogenic Wolman disease 2018-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674535 SCV000893854 pathogenic Lysosomal acid lipase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000760967 SCV001582255 pathogenic Wolman disease 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg65*) 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 (rs779712562, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with cholesteryl ester storage disease (PMID: 9554751). This variant is also known as p.Arg44*. ClinVar contains an entry for this variant (Variation ID: 558291). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000674535 SCV002091488 pathogenic Lysosomal acid lipase deficiency 2020-12-09 no assertion criteria provided clinical testing

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