ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu)

gnomAD frequency: 0.00002  dbSNP: rs753201154
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704630 SCV000570493 likely benign not provided 2018-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539550 SCV000658068 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003352887 SCV004078470 uncertain significance Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing The c.1376G>A (p.G459E) alteration is located in exon 5 (coding exon 5) of the CHRNA4 gene. This alteration results from a G to A substitution at nucleotide position 1376, causing the glycine (G) at amino acid position 459 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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