NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002498633.8
Allele description [Variation Report for NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)]
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
Condition(s)
- Name:
- Cognitive impairment with or without cerebellar ataxia (CIAT)
- Identifiers:
- MONDO: MONDO:0013680; MedGen: C3280415; OMIM: 614306
- Name:
- Developmental and epileptic encephalopathy, 13 (DEE13)
- Synonyms:
- Early infantile epileptic encephalopathy 13; SCN8A-Related Epilepsy
- Identifiers:
- MONDO: MONDO:0013801; MedGen: C3281191; Orphanet: 442835; OMIM: 614558
Assertion and evidence details
Last Updated: Oct 8, 2024