Table 4.

Summary table with the conclusions for each ABCC8 variant.

cDNA and protein position	Conclusion
c.211C > T p.(His71Tyr):	Likely pathogenic, located in a gating regulatory region, confirmed missense, predictors agree
c.298G > A p.(Glu100Lys)	VUS, located in a gating regulatory region, confirmed missense, predictors do not agree
c.1429G > A p.(Val477Met)	Likely pathogenic, confirmed missense, all the predictors agree
c.1643C > T p.(Thr548Met)	Likely pathogenic, all the predictors agree, inconclusive minigenes, predicted non splicing altering
c.2176G > A p.(Ala726Thr)	VUS, located in NBD1, predictors do not agree, predicted non splicing altering
c.2422C > A p.(Gln808Lys)	Likely pathogenic, located in NBD1, inconclusive minigenes, possibly splicing altering
c.2694 + 1G > A	Likely pathogenic, located in NBD1, inconclusive minigenes, possibly splicing altering
c.3238G > A p.(Val1080Ile)	VUS, unconfirmed missense, predictors do not agree, predicted non splicing altering
c.3288_3289del p.(His1097ProfsTer16)	Pathogenic, clearly dysfunctional protein
c.3394G > A p.(Asp1132Asn)	Pathogenic, minigenes confirmed exon skipping, induces a frameshift
c.3976G > A p.(Glu1326Lys)	Likely pathogenic, located in NBD2, inconclusive minigenes, possibly splicing altering