ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter)

gnomAD frequency: 0.00001  dbSNP: rs144659252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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).

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