Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Genomics, |
RCV001779964 | SCV002015213 | likely pathogenic | Atelosteogenesis type II | 2021-11-17 | no assertion criteria provided | clinical testing | This variant has not been identified in gnomAD and 1000g databases. This mis-sense variant is present in compound heterozygous state with another stop gain variant c.532C>T (p.R178X) in SLC26A2 gene. Phenotype observed in the proband was severe shortening of all long bones, exaggerated lumbar lordosis, big toe and radial shortening. Atelosteogenesis II is an autosomal recessive disorder and can be caused by Homozygous or Compound heterozygous mutations. Based on phenotypic overall and identified variant we classify this as likely pathogenic variant. |