ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr)

dbSNP: rs878854704
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232942 SCV000288518 uncertain significance Atrial septal defect 7 2015-12-22 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NKX2-5-related disease. This sequence change replaces alanine with threonine at codon 172 of the NKX2-5 protein (p.Ala172Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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