ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu)

dbSNP: rs904474688
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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 RCV000644447 SCV000766143 uncertain significance Atrial septal defect 7 2017-08-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NKX2-5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 81 of the NKX2-5 protein (p.Lys81Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.

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