ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)

dbSNP: rs765744298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Statistical Genetics, Columbia University RCV001449850 SCV001652887 likely pathogenic Gaucher disease due to saposin C deficiency 2021-04-14 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002541741 SCV003473164 pathogenic Sphingolipid activator protein 1 deficiency 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 359 of the PSAP protein (p.Glu359Ala). This variant is present in population databases (rs765744298, gnomAD 0.04%). This missense change has been observed in individual(s) with atypical Gaucher disease (PMID: 35456468). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 991967). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PSAP protein function. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001280271 SCV001467436 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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