ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)

dbSNP: rs912441212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Alexion, Astrazeneca Rare Disease, Astrazeneca RCV000857273 SCV000999862 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001858537 SCV002287960 uncertain significance Wolman disease 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 121 of the LIPA protein (p.Arg121Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). 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: 695059). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects LIPA function (PMID: 31180157). 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.

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