ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)

gnomAD frequency: 0.00001  dbSNP: rs367664486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alexion Pharmaceuticals, Inc RCV000857250 SCV000999838 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research
Invitae RCV002536215 SCV003446181 uncertain significance Wolman disease 2021-12-22 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 374 of the LIPA protein (p.His374Tyr). This variant is present in population databases (rs367664486, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LIPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 695036). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects LIPA function (PMID: 3118057). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV003480881 SCV004226614 likely pathogenic not provided 2022-09-15 criteria provided, single submitter clinical testing PP3, PP4, PM2, PM3_supporting, PS3

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