ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.67G>A (p.Gly23Arg)

gnomAD frequency: 0.13459  dbSNP: rs1051339
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252335 SCV000303108 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280849 SCV000366002 likely benign Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001093974 SCV000366003 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 RCV000280849 SCV001731467 benign Wolman disease 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001093974 SCV001754872 benign Lysosomal acid lipase deficiency 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675917 SCV001940383 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31182375)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000252335 SCV002051163 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365257 SCV002666299 benign Cardiovascular phenotype 2019-02-11 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 RCV000675917 SCV000801644 benign not provided 2015-12-15 no assertion criteria provided clinical testing
Natera, Inc. RCV001093974 SCV002091521 benign Lysosomal acid lipase deficiency 2019-11-21 no assertion criteria provided clinical testing

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