ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1068A>G (p.Leu356=)

gnomAD frequency: 0.00013  dbSNP: rs137932212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001476883 SCV001681102 likely benign Wolman disease 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411923 SCV002723718 likely benign Cardiovascular phenotype 2022-08-30 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 RCV004538552 SCV004710415 likely benign LIPA-related disorder 2022-03-23 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).
Natera, Inc. RCV001277800 SCV001464769 uncertain significance Lysosomal acid lipase deficiency 2020-08-24 no assertion criteria provided clinical testing

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