ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2120A>C (p.Tyr707Ser) (rs752073539)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489835 SCV000577531 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The Y747S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y747S 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). The Y747S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. 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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