NM_000487.6(ARSA):c.1299G>A (p.Leu433=) AND Metachromatic leukodystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002706440.2
Allele description [Variation Report for NM_000487.6(ARSA):c.1299G>A (p.Leu433=)]
NM_000487.6(ARSA):c.1299G>A (p.Leu433=)
Condition(s)
- Name:
- Metachromatic leukodystrophy (MLD)
- Synonyms:
- Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100
Assertion and evidence details
Last Updated: Mar 5, 2024