ClinVar Miner

Submissions for variant NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])

dbSNP: rs750165040
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000266728 SCV000334133 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317802 SCV000850164 likely benign Inborn genetic diseases 2019-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001080228 SCV001002465 likely benign Pitt-Hopkins-like syndrome 2 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000266728 SCV001882859 benign not provided 2015-09-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29619247)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227737 SCV003924137 likely benign Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 2021-03-30 criteria provided, single submitter clinical testing NRXN1 NM_138735.4 exon 1 p.Gly26dup (c.77_79dup): This variant has been reported in the literature in 1 individual with epilepsy (Friedman 2018 PMID:29619247). This variant is present in 0.1% (15/13472) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-50346870-G-GCGC?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame duplication of 1 Glycine amino acid at position 26 within a repeat region 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.

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