ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.543G>C (p.Gln181His)

dbSNP: rs72554028
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588165 SCV000698415 pathogenic Atrial septal defect 7 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The NKX2-5 c.543G>C (p.Gln181His) variant involves the alteration of a conserved nucleotide and results in a replacement of a medium size and polar Glutamine (Q) with a medium size and polar Histidine (H). 4/5 in silico tools predict a damaging outcome for this substitution. This variant is absent in 90576 control chromosomes while it was reported in many atrioventricular conduction disease (AVCD) patients indicating pathogenicity. Moreover, in an AVCD family the variant was shown to co-segregate with the disease further supporting a deleterious outcome. In addition, a functional study demonstrated to variant to result in significantly decreased transcriptional activity at the atrial natriuretic factor promoter. Taken together, this variant is classified as pathogenic.

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