ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1244A>G (p.Tyr415Cys) (rs371321580)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498917 SCV000590052 uncertain significance not provided 2018-01-03 criteria provided, single submitter clinical testing The Y455C variant in the NRXN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y455C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y455C 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. 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. We interpret Y455C as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000509452 SCV000607249 not provided NRXN-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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