Description
p.Leu23Arg (CTA>CGA): c.68 T>G in exon 2 of the KRAS gene (NM_004985.3). The L23R missense change likely associated with a KRAS-related disorder was identified in the KRAS gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge.The L23R amino acid substitution is non-conservative with a neutral, non-polar residue (Leu) being replaced by a positively charged, polar residue (Arg). The residue at which this substitution occurs is highly conserved across species. Other missense mutations in nearby residues (Q22R, Q22E, N26I) havebeen reported in association with Noonan and cardio-facio-cutaneous syndromes. The L23R missense change was not reported inapproximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, L23R is a strong candidate for a disease-causing mutation, however, the possibility that it is a benign variant cannot be excluded. The variant is found in NOONAN panel(s).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
