R212C (p.Arg212Cys) variant of MYO7A (Unconventional myosin-VIIa)
R212C (p.Arg212Cys) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Usher syndrome type 1; Autosomal recessive nonsyndromic hearing lo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R212C (p.Arg212Cys) variant details
- p.Arg212Cys
- rs121965080
- ClinGen CA277962
- cosmic curated COSV10534
- ClinVar RCV000012625
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome type 1; Autosomal recessive nonsyndromic hearing lo
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome type 1; Autosomal recessive nonsynd)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (PMID 7568224)
- Cited in: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (PMID 8900236)