ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.539-5C>T

dbSNP: rs2297472
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242787 SCV000303106 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094049 SCV000365992 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.
Illumina Laboratory Services, Illumina RCV000363630 SCV000365993 benign Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000363630 SCV001724244 benign Wolman disease 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094049 SCV001754871 benign Lysosomal acid lipase deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675915 SCV001912478 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347948 SCV002642832 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675915 SCV000801642 benign not provided 2015-10-26 no assertion criteria provided clinical testing
Natera, Inc. RCV001094049 SCV002091410 benign Lysosomal acid lipase deficiency 2019-11-20 no assertion criteria provided clinical testing

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