ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) (rs201837579)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000712450 SCV000224878 uncertain significance not provided 2016-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000712450 SCV000241835 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The I603T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, and it was not observed with any significant frequency in the 1000 Genomes Project. The I603T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000712450 SCV000286210 likely benign not provided 2019-02-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712450 SCV000842946 uncertain significance not provided 2017-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719093 SCV000849957 likely benign History of neurodevelopmental disorder 2017-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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