M1V (p.Met1Val) variant of PCDH15 (Protocadherin-15)
M1V (p.Met1Val) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Usher syndrome type 1D; Autosomal recessive nonsyndromic hearing l. The record also includes published literature.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1040514625
- ClinGen CA207620760
- ClinVar RCV000667761
- ClinVar RCV001295433
- Conflicting interpretations
- not provided; Usher syndrome type 1D; Autosomal recessive nonsyndromic hearing l
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Usher syndrome type 1D; Autosomal recessive nonsyn)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)