NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) AND Gaucher disease due to saposin C deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001449850.1
Allele description [Variation Report for NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)]
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025