ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.889G>T (p.Glu297Ter)

dbSNP: rs765607332
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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 RCV001942173 SCV002236322 pathogenic Sphingolipid activator protein 1 deficiency 2022-02-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as p.Glu299*. This premature translational stop signal has been observed in individual(s) with Saposin B deficiency (PMID: 26831127). This variant is present in population databases (rs765607332, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu297*) in the PSAP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PSAP are known to be pathogenic (PMID: 8554069, 11309366, 17616409, 19267410, 30632081).

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