ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.2T>G (p.Met1Arg)

dbSNP: rs767713908
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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 RCV001389490 SCV001590882 pathogenic Sphingolipid activator protein 1 deficiency 2021-02-19 criteria provided, single submitter clinical testing Disruption of the initiator codon has been demonstrated to severely reduce the expression of the PSAP protein in cell culture and patient cells (PMID: 20484222). For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individual(s) with saposin C deficiency (PMID: 17616409, 20484222, 1371116). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the PSAP mRNA. The next in-frame methionine is located at codon 76.

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