ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.594dup (p.Ala199fs)

dbSNP: rs780495201
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000100 SCV000485753 likely pathogenic Lysosomal acid lipase deficiency 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000000099 SCV001401612 pathogenic Wolman disease 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala199Cysfs*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 (rs780495201, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with LIPA-related conditions (PMID: 8146180, 16255772). ClinVar contains an entry for this variant (Variation ID: 80). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001549751 SCV001769960 pathogenic not provided 2020-01-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 16255772, 30315827, 8146180)
Revvity Omics, Revvity RCV001549751 SCV003820973 pathogenic not provided 2022-04-29 criteria provided, single submitter clinical testing
OMIM RCV000000099 SCV000020242 pathogenic Wolman disease 1994-03-29 no assertion criteria provided literature only
OMIM RCV000524544 SCV000020243 pathogenic Cholesteryl ester storage disease 1994-03-29 no assertion criteria provided literature only
Natera, Inc. RCV000000100 SCV002091388 pathogenic Lysosomal acid lipase deficiency 2020-09-22 no assertion criteria provided clinical testing

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