ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.260G>T (p.Gly87Val) (rs587778878)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000191997 SCV000797291 likely pathogenic Lysosomal acid lipase deficiency 2018-01-19 criteria provided, single submitter clinical testing
Invitae RCV001376576 SCV000831923 pathogenic Wolman disease 2020-07-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 87 of the LIPA protein (p.Gly87Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs587778878, ExAC 0.009%). This variant has been reported in several individuals with cholesteryl ester storage disease (CESD) or Wolman disease (PMID: 8894696, 2129132, 23424026, 11441129, 28374935). ClinVar contains an entry for this variant (Variation ID: 88770). Experimental studies have shown that this Gly87Val missense change abolishes enzymatic activity of the LIPA protein (PMID: 11441129, 9684740). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269917 SCV001450275 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing
FirmaLab,FirmaLab RCV000191997 SCV000106039 pathogenic Lysosomal acid lipase deficiency no assertion criteria provided clinical testing
GeneReviews RCV000191997 SCV000246263 pathogenic Lysosomal acid lipase deficiency 2016-09-01 no assertion criteria provided literature only
Natera, Inc. RCV000191997 SCV001453550 pathogenic Lysosomal acid lipase deficiency 2020-09-16 no assertion criteria provided clinical testing

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