ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)

gnomAD frequency: 0.00089  dbSNP: rs147493628
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000887810 SCV000365982 uncertain significance Lysosomal acid lipase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services,Illumina RCV000287212 SCV000365983 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001705448 SCV000572892 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29196158)
Eurofins NTD LLC (GA) RCV000478562 SCV000702213 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing
Invitae RCV000287212 SCV001031396 likely benign Wolman disease 2021-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000887810 SCV001456941 likely benign Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000478562 SCV001917983 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705448 SCV001964416 likely benign not provided no assertion criteria provided clinical testing

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