ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.279T>C (p.Ser93=)

gnomAD frequency: 0.00001  dbSNP: rs1011619050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730608 SCV000858356 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080720 SCV001049209 likely benign Wolman disease 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440571 SCV002749741 likely benign Cardiovascular phenotype 2019-12-21 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.

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