ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)

dbSNP: rs104893900
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000009568 SCV001214744 pathogenic Atrial septal defect 7 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 178 of the NKX2-5 protein (p.Thr178Met). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects NKX2-5 function (PMID: 10948187, 21677783, 27013732). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 9004). This missense change has been observed in individuals with NKX2-5-related conditions (PMID: 9651244, 12798584, 15810002). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000009568 SCV000029786 pathogenic Atrial septal defect 7 2005-07-15 no assertion criteria provided literature only

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