ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) (rs772684869)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667739 SCV000792238 uncertain significance Lysosomal acid lipase deficiency 2017-06-12 criteria provided, single submitter clinical testing
Alexion Pharmaceuticals, Inc RCV000667739 SCV000999841 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research
Invitae RCV001379331 SCV001577117 likely pathogenic Wolman disease 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 357 of the LIPA protein (p.Leu357Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs772684869, ExAC 0.01%). This variant has been observed in individual(s) with cholesteryl ester storage disease (PMID: 7773732). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as Leu336Pro in the literature. ClinVar contains an entry for this variant (Variation ID: 552474). This variant has been reported to affect LIPA protein function (PMID: 31131398, 31180157, 7499245). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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