ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.594dup (p.Ala199fs) (rs780495201)

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Total submissions: 4
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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 2020-09-24 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. This variant is present in population databases (rs780495201, ExAC 0.003%). This variant has been observed in several individuals affected with LIPA-related conditions (PMID: 8146180, 16255772). ClinVar contains an entry for this variant (Variation ID: 80). Loss-of-function variants in LIPA are known to be pathogenic (PMID: 23485521). For these reasons, this variant has been classified as Pathogenic.
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

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