NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) AND Progressive sclerosing poliodystrophy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000690021.7
Allele description [Variation Report for NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)]
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)
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
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000886967 | Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015) | Likely pathogenic (Oct 1, 2018) | germline | clinical testing |
Last Updated: Mar 10, 2024