ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.784C>T (p.Arg262Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002731684 SCV003556966 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.784C>T (p.R262W) alteration is located in exon 6 (coding exon 5) of the CHRNA2 gene. This alteration results from a C to T substitution at nucleotide position 784, causing the arginine (R) at amino acid position 262 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143538 SCV003832050 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 4 2021-03-02 criteria provided, single submitter clinical testing

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