NM_000429.3(MAT1A):c.1046T>C (p.Val349Ala) AND Hepatic methionine adenosyltransferase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486148.2
Allele description [Variation Report for NM_000429.3(MAT1A):c.1046T>C (p.Val349Ala)]
NM_000429.3(MAT1A):c.1046T>C (p.Val349Ala)
Condition(s)
- Name:
- Hepatic methionine adenosyltransferase deficiency
- Synonyms:
- MAT I/III DEFICIENCY; Isolated Persistent Hypermethioninemia; Methionine adenosyltransferase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009607; MeSH: C564683; MedGen: C0268621; Orphanet: 168598; OMIM: 250850
Assertion and evidence details
Last Updated: Apr 20, 2024