ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu)

dbSNP: rs387906774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002509168 SCV002818588 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing Identified in a patient with a secundum atrial septal defect and in the patient's grandfather who has a bicuspid aortic valve (McElhinney et al., 2003); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 14607454)
PreventionGenetics, part of Exact Sciences RCV003415729 SCV004116847 uncertain significance NKX2-5-related disorder 2023-03-11 criteria provided, single submitter clinical testing The NKX2-5 c.380C>A variant is predicted to result in the amino acid substitution p.Ala127Glu. This variant has been reported in an individual with atrial septal defect and a family history of structural heart defects (McElhinney et al. 2003. PubMed ID: 14607454). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
OMIM RCV000023021 SCV000044312 pathogenic Atrial septal defect 7 2003-11-05 no assertion criteria provided literature only

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