ClinVar Miner

Submissions for variant NM_001135659.2(NRXN1):c.3485-109897G>C (rs777054372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717529 SCV000848382 uncertain significance History of neurodevelopmental disorder 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000441448 SCV000513976 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in an alternative transcript of the NRXN1 gene. The G28A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G28A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. However, the G28A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. 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.

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