Submissions for variant NM_000235.4(LIPA):c.46A>C (p.Thr16Pro)

gnomAD frequency: 0.25399  dbSNP: rs1051338

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175562	SCV000227070	benign	not specified	2015-03-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175562	SCV000303105	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000350905	SCV000366006	benign	Wolman disease	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000606750	SCV000366007	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000350905	SCV001729013	benign	Wolman disease	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000606750	SCV001754873	benign	Lysosomal acid lipase deficiency	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675918	SCV001893547	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22395809, 31645127, 29196158, 28279971)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000175562	SCV002051172	likely benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336425	SCV002640015	benign	Cardiovascular phenotype	2018-12-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606750	SCV000732966	benign	Lysosomal acid lipase deficiency		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675918	SCV000801645	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000175562	SCV001920725	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000606750	SCV002091532	benign	Lysosomal acid lipase deficiency	2019-11-20	no assertion criteria provided	clinical testing