ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.407A>G (p.Lys136Arg) (rs202118977)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188311 SCV000241922 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing The c.407 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.407 A>G variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In-silico splice prediction models predict c.407 A>G may create a cryptic donor site. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. If c.407 A>G does not alter splicing, it will result in the K136R missense change. This substitution occurs at an amino acid position that is conserved in mammals; however, Arginine is observed at this position in evolution. The K136R 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 predicts this variant likely does not alter 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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