NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) AND Acrocallosal syndrome
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Jan 25, 2025
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000201541.25
Allele description [Variation Report for NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)]
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
Condition(s)
- Name:
- Acrocallosal syndrome (ACLS)
- Synonyms:
- HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM; Schinzel syndrome 1; Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly
- Identifiers:
- MONDO: MONDO:0008708; MedGen: C0796147; Orphanet: 36; OMIM: 200990
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000256440 | UW Hindbrain Malformation Research Program, University of Washington | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Bachmann-Gagescu et al. (J Med Genet. 2015)) | Pathogenic (Feb 23, 2015) | unknown | research |
Last Updated: Jul 13, 2025