ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)

dbSNP: rs766364179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670582 SCV000795451 uncertain significance Lysosomal acid lipase deficiency 2017-11-08 criteria provided, single submitter clinical testing
Alexion Pharmaceuticals, Inc RCV000670582 SCV000999865 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research
Invitae RCV001855544 SCV002143948 pathogenic Wolman disease 2022-04-03 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects LIPA function (PMID: 31180157). ClinVar contains an entry for this variant (Variation ID: 554874). This missense change has been observed in individual(s) with biochemical diagnosis of lysosomal acid lipase deficiency (PMID: 29958253, 30684275, 32382506). This variant is present in population databases (rs766364179, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 103 of the LIPA protein (p.Ser103Arg).

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