ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.396C>G (p.Leu132=)

gnomAD frequency: 0.00024  dbSNP: rs201603238
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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) RCV000598286 SCV000702239 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing
Invitae RCV001507214 SCV001052054 benign Wolman disease 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000598286 SCV001817656 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377226 SCV002624165 likely benign Cardiovascular phenotype 2022-04-20 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. RCV001083196 SCV001456944 likely benign Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing

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