ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.299_315del (p.Pro100fs)

dbSNP: rs2133048124
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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 RCV001917936 SCV002171967 pathogenic Sphingolipid activator protein 1 deficiency 2021-01-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with PSAP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro100Leufs*17) 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: 11309366, 19267410).

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