Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV003335896 | SCV004046159 | likely pathogenic | Intellectual disability, autosomal dominant 43 | criteria provided, single submitter | clinical testing | This frameshifting variant in exon 5 of 10 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the gnomAD population database and thus presumed to be rare. Based on the available evidence, c.2925del (p.His975GlnfsTer33) is classified as Likely Pathogenic. |