NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) AND Congenital glucose-galactose malabsorption
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jul 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001144293.8
Allele description [Variation Report for NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)]
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
Condition(s)
- Name:
- Congenital glucose-galactose malabsorption (GGM)
- Synonyms:
- Glucose galactose malabsorption deficiency; Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011731; MedGen: C0268186; Orphanet: 35710; OMIM: 606824
Assertion and evidence details
Last Updated: Sep 29, 2024