ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.76C>T (p.Leu26=)

gnomAD frequency: 0.00004  dbSNP: rs377437637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440895 SCV001643812 likely benign Wolman disease 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405036 SCV002670519 likely benign Cardiovascular phenotype 2021-04-19 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.
Natera, Inc. RCV001826258 SCV002091510 likely benign Lysosomal acid lipase deficiency 2021-09-24 no assertion criteria provided clinical testing

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