ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2414A>G (p.Asn805Ser) (rs753087756)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519365 SCV000620607 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing The N845S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N845S 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 N845S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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. 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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