ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3365-109922G>C (rs1188018101)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579240 SCV000681133 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The G20R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G20R variant is not observed in large population cohorts (Lek et al., 2016). The G20R 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. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter 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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