ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1292G>A (p.Ser431Asn) (rs796052788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188307 SCV000241918 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing The S471N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S471N 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 mutation or a rare benign variant. The variant is found in EPILEPSYV2-1 panel(s).
Undiagnosed Diseases Network,NIH RCV000626016 SCV000746625 uncertain significance Pitt-Hopkins-like syndrome 2 2017-10-25 criteria provided, single submitter clinical testing Compound heterozygous NRXN1 variants of uncertain significance were identified. Our patient's phenotype, while relatively non-specific, does seem to be a good fit for this condition.

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