ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser)

gnomAD frequency: 0.00001  dbSNP: rs764808511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658196 SCV000779967 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002317905 SCV000851461 uncertain significance Inborn genetic diseases 2017-01-16 criteria provided, single submitter clinical testing The p.P425S variant (also known as c.1273C>T), located in coding exon 5 of the CHRNA4 gene, results from a C to T substitution at nucleotide position 1273. The proline at codon 425 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV001034411 SCV001197759 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2019-11-26 criteria provided, single submitter clinical testing

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