ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.891C>T (p.Ser297=)

gnomAD frequency: 0.00039  dbSNP: rs145066614
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000673075 SCV000365980 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 RCV000322362 SCV000365981 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594326 SCV000704061 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing
Counsyl RCV000673075 SCV000798243 uncertain significance Lysosomal acid lipase deficiency 2018-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000322362 SCV001031295 likely benign Wolman disease 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000594326 SCV001786514 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28502505)
Ambry Genetics RCV002374515 SCV002687535 likely benign Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV004544507 SCV004769259 likely benign LIPA-related disorder 2021-04-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003993923 SCV004813512 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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