Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000999186 | SCV001155683 | likely pathogenic | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Genomics, |
RCV002226750 | SCV002505658 | likely pathogenic | Spondyloepimetaphyseal dysplasia, Genevieve type | 2022-04-25 | no assertion criteria provided | clinical testing | The homozygous start-loss variant c.1A>G (p.1M?) has an allele frequency-0.0018% in gnomAD (aggregated) database and 0.0033% in 1000g databases. In-silico bioinformatic software predicts this variant by mutation taster as Disease causing. Phenotype observed were micromelia, bilateral hydrocephalus, cerebellar hypoplasia, hypoplastic nasal bone and hydrops. Spondyloepimetaphyseal dysplasia, Camera-Genevieve type is an autosomal recessive disorder. This is also known as NANS-CDG as sialic acid plays a vital role in multiple cellular functions. We classify this variant as likely pathogenic based on the phenotypes. |