ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.521C>T (p.Ser174Phe)

dbSNP: rs1842777072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203433 SCV001374599 likely pathogenic Wolman disease 2023-03-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LIPA protein function. ClinVar contains an entry for this variant (Variation ID: 934943). This missense change has been observed in individual(s) with cholesteryl ester storage disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 174 of the LIPA protein (p.Ser174Phe).
Natera, Inc. RCV001833789 SCV002091432 uncertain significance Lysosomal acid lipase deficiency 2020-12-18 no assertion criteria provided clinical testing

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