ClinVar Miner

Submissions for variant NM_001135659.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) (rs774230140)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720288 SCV000851165 uncertain significance History of neurodevelopmental disorder 2016-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768036 SCV000898863 uncertain significance Pitt-Hopkins-like syndrome 2; Schizophrenia 17 2018-07-03 criteria provided, single submitter clinical testing NRXN1 NM_001135659.2 exon 2 p.Glu222_Glu224dup (c.665_673dup): This variant has not been reported in the literature but is present in 9/32736 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs774230140). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame duplication of 3 amino acids at position 222 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000649736 SCV000771568 uncertain significance Pitt-Hopkins-like syndrome 2 2018-01-22 criteria provided, single submitter clinical testing This variant, c.665_673dupAGGGCGAGG, results in the insertion of 3 amino acids to the NRXN1 protein (p.Glu222_Glu224dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NRXN1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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