ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1113A>G (p.Glu371=)

gnomAD frequency: 0.00302  dbSNP: rs116827211
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173660 SCV000224795 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369048 SCV000365972 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083866 SCV000365973 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000369048 SCV001122512 benign Wolman disease 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000675913 SCV001821046 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28502505)
Ambry Genetics RCV002433762 SCV002749015 benign Cardiovascular phenotype 2021-12-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV000675913 SCV000801640 likely benign not provided 2017-05-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001083866 SCV001453541 benign Lysosomal acid lipase deficiency 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000675913 SCV001922287 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000675913 SCV001974578 likely benign not provided no assertion criteria provided clinical testing

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