ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.855C>T (p.Ala285=)

gnomAD frequency: 0.00011  dbSNP: rs1040901231
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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 RCV000923352 SCV001068822 likely benign Sphingolipid activator protein 1 deficiency 2024-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280274 SCV001467439 uncertain significance Metachromatic leukodystrophy 2020-08-14 no assertion criteria provided clinical testing

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