NM_002693.3(POLG):c.3346A>G (p.Met1116Val) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000552872.4
Allele description [Variation Report for NM_002693.3(POLG):c.3346A>G (p.Met1116Val)]
NM_002693.3(POLG):c.3346A>G (p.Met1116Val)
Condition(s)
- Name:
- Progressive sclerosing poliodystrophy (MTDPS4A)
- Synonyms:
- Alpers disease; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers progressive infantile poliodystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008758; MedGen: C0205710; Orphanet: 726; OMIM: 203700
Assertion and evidence details
Last Updated: Aug 4, 2024