Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853286 | SCV000996122 | pathogenic | Lethal congenital contracture syndrome 7 | 2018-03-30 | criteria provided, single submitter | clinical testing | This variant is predicted to result in a premature stop codon and is therefore considered a loss-of-function mutation. This variant has not been reported in the literature to best of our knowledge. It is present as a heterozygous change in the gnomAD population database at a frequency of 0.001% (3/277134). Based on the available evidence, the c.2668C>T (p.Arg890Ter) variant is classified as pathogenic. |
Invitae | RCV003708554 | SCV004476352 | pathogenic | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 692016). This variant has not been reported in the literature in individuals affected with CNTNAP1-related conditions. This variant is present in population databases (rs144659252, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg890*) in the CNTNAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNTNAP1 are known to be pathogenic (PMID: 24319099). |