ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) (rs1064796396)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485682 SCV000573086 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing The V431L variant in the CHRNB2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has not been detected at a significant frequency in presumably healthy individuals tested at GeneDx. The V431L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret V431L as a variant of uncertain significance.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626232 SCV000746879 uncertain significance Epilepsy, nocturnal frontal lobe, type 3 2020-05-03 criteria provided, single submitter clinical testing

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