Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000680834 | SCV000808283 | pathogenic | not provided | 2018-04-17 | criteria provided, single submitter | clinical testing | The P264L variant in the ACTG1 gene has been reported previously to segregate in a family with hearing loss (Zhu et al., 2003). The P264L variant is not observed in large population cohorts (Lek et al., 2016). The P264L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In addition, mice homozygous for the P264L variant developed hearing loss (Drummond et al., 2012). We interpret P264L as a pathogenic variant. |
OMIM | RCV000019983 | SCV000040281 | pathogenic | Autosomal dominant nonsyndromic hearing loss 20 | 2003-11-01 | no assertion criteria provided | literature only |