ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr)

gnomAD frequency: 0.00001  dbSNP: rs139657121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702830 SCV000831701 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-03-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991787 SCV001143534 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397463 SCV002714194 uncertain significance Inborn genetic diseases 2018-12-12 criteria provided, single submitter clinical testing The p.I574T variant (also known as c.1721T>C), located in coding exon 5 of the CHRNA4 gene, results from a T to C substitution at nucleotide position 1721. The isoleucine at codon 574 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781970 SCV000920425 uncertain significance Seizure 2016-10-11 no assertion criteria provided clinical testing

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