ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.712G>A (p.Ala238Thr)

dbSNP: rs2133043341
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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 RCV001945056 SCV002181217 uncertain significance Sphingolipid activator protein 1 deficiency 2021-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine with threonine at codon 238 of the PSAP protein (p.Ala238Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant has not been reported in the literature in individuals affected with PSAP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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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