ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter)

dbSNP: rs104893901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000009569 SCV000551862 pathogenic Atrial septal defect 7 2023-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln170*) in the NKX2-5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 155 amino acid(s) of the NKX2-5 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with congenital heart defects (PMID: 9651244, 10587520, 21561848; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 9005). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects NKX2-5 function (PMID: 10948187). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009569 SCV000029787 pathogenic Atrial septal defect 7 1998-07-03 no assertion criteria provided literature only

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