ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.743A>G (p.Tyr248Cys)

dbSNP: rs2133040490
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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 RCV002028420 SCV002282205 uncertain significance Sphingolipid activator protein 1 deficiency 2021-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045484 SCV005012019 uncertain significance Inborn genetic diseases 2023-11-18 criteria provided, single submitter clinical testing The c.743A>G (p.Y248C) alteration is located in exon 7 (coding exon 7) of the PSAP gene. This alteration results from a A to G substitution at nucleotide position 743, causing the tyrosine (Y) at amino acid position 248 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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