ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.10C>G (p.Leu4Val)

gnomAD frequency: 0.00002  dbSNP: rs574280149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512836 SCV000608552 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087790 SCV001107447 benign Sphingolipid activator protein 1 deficiency 2025-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834647 SCV002088155 benign Metachromatic leukodystrophy 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960205 SCV004768595 likely benign PSAP-related disorder 2020-04-06 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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