ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)

gnomAD frequency: 0.00001  dbSNP: rs558427025
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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 RCV000513446 SCV000608551 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088093 SCV001107446 benign Sphingolipid activator protein 1 deficiency 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023457 SCV005012011 likely benign Inborn genetic diseases 2022-12-05 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. RCV001829458 SCV002087097 benign Metachromatic leukodystrophy 2020-01-16 no assertion criteria provided clinical testing

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