ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.756A>C (p.Ile252=)

gnomAD frequency: 0.00170  dbSNP: rs145037134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179736 SCV000232032 benign not specified 2014-12-30 criteria provided, single submitter clinical testing
Invitae RCV001081963 SCV001122514 benign Wolman disease 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390441 SCV002670899 likely benign Cardiovascular phenotype 2022-03-06 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675914 SCV000801641 likely benign not provided 2017-05-16 no assertion criteria provided clinical testing

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