ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.186C>T (p.Pro62=)

gnomAD frequency: 0.00001  dbSNP: rs749422368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000922986 SCV001068437 likely benign Sphingolipid activator protein 1 deficiency 2024-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923297 SCV004745297 likely benign PSAP-related disorder 2019-09-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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