ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) (rs121965086)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000096 SCV000793037 likely pathogenic Lysosomal acid lipase deficiency 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV000000095 SCV000931711 pathogenic Wolman disease 2020-07-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 200 of the LIPA protein (p.Leu200Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs121965086, ExAC 0.001%). This variant has been observed to segregate with cholesterol ester storage disease (CESD) in a family (PMID: 8598644) and also has been observed in combination with another LIPA variant in individuals affected with CESD or Wolman disease (PMID: 8617513, 8146180, 23430518). This variant is also known as L179P in the literature. ClinVar contains an entry for this variant (Variation ID: 77). Experimental studies have shown that this missense change markedly reduces lipase enzyme activity in vitro (PMID: 7499245, 10562460). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000095 SCV000020238 pathogenic Wolman disease 1995-01-01 no assertion criteria provided literature only
OMIM RCV000000096 SCV000020239 pathogenic Lysosomal acid lipase deficiency 1995-01-01 no assertion criteria provided literature only

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