ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.588C>T (p.Asp196=)

gnomAD frequency: 0.00008  dbSNP: rs374869360
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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 RCV000924976 SCV001070503 likely benign Sphingolipid activator protein 1 deficiency 2024-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815460 SCV002062919 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958290 SCV005479197 likely benign Inborn genetic diseases 2024-07-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001825865 SCV002087053 likely benign Metachromatic leukodystrophy 2020-01-18 no assertion criteria provided clinical testing

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