ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.120C>T (p.Ser40=)

gnomAD frequency: 0.00134  dbSNP: rs141231601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000961169 SCV001108204 benign Sphingolipid activator protein 1 deficiency 2025-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413758 SCV004126765 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing PSAP: BP4, BP7
Natera, Inc. RCV001832208 SCV002087108 likely benign Metachromatic leukodystrophy 2019-10-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003970825 SCV004783416 likely benign PSAP-related disorder 2020-04-29 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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