NM_001482.3(GATM):c.4C>G (p.Leu2Val) AND Arginine:glycine amidinotransferase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002837550.2
Allele description [Variation Report for NM_001482.3(GATM):c.4C>G (p.Leu2Val)]
NM_001482.3(GATM):c.4C>G (p.Leu2Val)
Condition(s)
- Name:
- Arginine:glycine amidinotransferase deficiency (CCDS3)
- Synonyms:
- AGAT deficiency; Creatine deficiency syndrome due to AGAT deficiency; GATM deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012996; MedGen: C2675179; Orphanet: 35704; OMIM: 612718
Assertion and evidence details
Last Updated: Feb 28, 2024