ClinVar Miner

Submissions for variant NM_001135659.2(NRXN1):c.1904G>A (p.Arg635His) (rs761279630)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764445 SCV000895502 uncertain significance Pitt-Hopkins-like syndrome 2; Schizophrenia 17 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000479818 SCV000573170 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The R635H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R635H 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 R635H 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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