ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1294C>T (p.Gln432Ter)

dbSNP: rs1064793409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481490 SCV000566040 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CHRNA4 gene. The Q432X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,400 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 Q432X nonsense variant in the CHRNA4 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, loss of function variants in the CHRNA4 gene have not been reported in the Human Gene Mutation Database in association with CHRNA4-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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