ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1097G>C (p.Ser366Thr)

gnomAD frequency: 0.00002  dbSNP: rs775563822
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002047374 SCV002116774 uncertain significance Sphingolipid activator protein 1 deficiency 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 366 of the PSAP protein (p.Ser366Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs775563822, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PSAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1352143). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PSAP protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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