M1V (p.Met1Val) variant of NF2 (Merlin)
M1V (p.Met1Val) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurofibromatosis, type 2; not provided. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1319282473
- ClinGen CA411145658
- ClinVar RCV001229737
- ClinVar RCV001751446
- Conflicting interpretations
- Neurofibromatosis, type 2; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Neurofibromatosis, type 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)