Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dr Meenakshi Bhat Group, |
RCV000504570 | SCV000598568 | uncertain significance | Chromosome 2q32-q33 deletion syndrome | 2017-08-15 | criteria provided, single submitter | clinical testing | The heterozygous nonsense variant [c.674G>A; p.Trp225*] in the exon 6 of the SATB2 gene. Stop gain mutation leads to loss of normal protein function through early truncation and hence this mutation could be the likely cause of clinical condition. |
Gene |
RCV000760865 | SCV000890761 | pathogenic | not provided | 2018-11-23 | criteria provided, single submitter | clinical testing | The W225X nonsense variant in the SATB2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W225X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of SATB2-associated syndrome in this individual. |