ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.323G>T (p.Ser108Ile)

dbSNP: rs1554074682
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497695 SCV000589672 likely pathogenic not provided 2015-11-17 criteria provided, single submitter clinical testing The S108I variant in the NR2F1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 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 S108I 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. The S108I variant is a strong candidate for a pathogenic variant

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