ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.846A>G (p.Thr282=)

gnomAD frequency: 0.00003  dbSNP: rs534838107
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000296316 SCV000333246 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing
Counsyl RCV000673100 SCV000798268 uncertain significance Lysosomal acid lipase deficiency 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV001391322 SCV001080072 likely benign Wolman disease 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446516 SCV002680615 likely benign Cardiovascular phenotype 2020-09-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Natera, Inc. RCV000673100 SCV002091333 likely benign Lysosomal acid lipase deficiency 2020-03-30 no assertion criteria provided clinical testing

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