NM_182760.4(SUMF1):c.606G>A (p.Pro202=) AND Multiple sulfatase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000343535.17
Allele description [Variation Report for NM_182760.4(SUMF1):c.606G>A (p.Pro202=)]
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)
Condition(s)
- Name:
- Multiple sulfatase deficiency (MSD)
- Synonyms:
- Juvenile sulfatidosis; Mucosulfatidosis; Multiple Sulfatase Deficiency Disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010088; MedGen: C0268263; Orphanet: 585; OMIM: 272200
Assertion and evidence details
Last Updated: Sep 29, 2024