ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.140C>A (p.Pro47His)

dbSNP: rs775608408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342897 SCV001536847 uncertain significance Wolman disease 2022-01-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 47 of the LIPA protein (p.Pro47His). This variant is present in population databases (rs775608408, gnomAD 0.01%). 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: 1039425). 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"). 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.
Natera, Inc. RCV001836332 SCV002091499 uncertain significance Lysosomal acid lipase deficiency 2021-07-15 no assertion criteria provided clinical testing

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