NM_022464.5(SIL1):c.754G>A (p.Ala252Thr) AND Marinesco-Sjögren syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003136688.3
Allele description [Variation Report for NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)]
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
Condition(s)
- Name:
- Marinesco-Sjögren syndrome (MSS)
- Synonyms:
- Marinesco-Garland Syndrome; Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism; Marinesco-Sjogren Syndrome-Myopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009567; MedGen: C0024814; Orphanet: 559; OMIM: 248800
Assertion and evidence details
Last Updated: Mar 16, 2024