ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)

gnomAD frequency: 0.00002  dbSNP: rs754680319
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537887 SCV003266448 benign Sphingolipid activator protein 1 deficiency 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003355353 SCV004050827 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.1137G>C (p.E379D) alteration is located in exon 10 (coding exon 10) of the PSAP gene. This alteration results from a G to C substitution at nucleotide position 1137, causing the glutamic acid (E) at amino acid position 379 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481049 SCV004225276 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing BP4, PM2
Natera, Inc. RCV001280270 SCV001467435 uncertain significance Metachromatic leukodystrophy 2020-04-11 no assertion criteria provided clinical testing

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