Table 4. Variants with a discrepant classification.

PKD1
DNA change (cDNA)	protein change	mutation type	exon/IVS	Gs	AGVGDs	PP2s	SIFTs	MTs	total score	concurrent variants/classification	prediction in this study	PKDB classification
c.224C>T	p.Ser75Phe	missense	2	155	C25	B	D	D	12	no	uncertain significance	highly likely pathogenic
c.827C>T	p.Thr276Ile	missense	5	89	C0	B	T	T	2	p.Glu2771Lys/HLP p.Leu726Phe/US p.Asp1332Asn/US	uncertain significance	likely pathogenic
c.1606G>A	p.Gly536Ser	missense	7	50	C0	D	T	D	8	no	uncertain significance	likely pathogenic
c.5830G>A	p.Gly1944Arg	missense	15	125	C0	D	D	D	14	p.Ala3053Thr/LP	likely pathogenic	indeterminate
c.6062T>C	p.Leu2021Pro	missense	15	98	C0	D	D	D	14	no	likely pathogenic	indeterminate
c.6151C>T	p.Arg2051Cys	missense	15	180	C15	B	T	T	3	c.11537 + 2T>A/DP p.Arg3277Cys/Hypomorphic	uncertain significance	likely pathogenic
c.7271C>T	p.Thr2424Met	missense	18	81	C65	D	D	D	20	no	likely pathogenic	indeterminate
c.9047A>G	p.Gln3016Arg	missense	25	43	C35	D	T	D	11	no	uncertain significance	highly likely pathogenic
c.9361G>A	p.Glu3121Lys	missense	26	56	C55	D	T	D	13	p.Arg4154Cys/HLP	uncertain significance	likely pathogenic
c.9412G>A	p.Val3138Met	missense	27	21	C15	D	D	D	13	no	uncertain significance	likely pathogenic
c.10678G>A	p.Gly3560Arg	missense	36	125	C0	D	T	D	14	p.Phe3257Leufs*57/DP	likely pathogenic	likely neutral
c.10951G>A	p.Gly3651Ser	missense	37	56	C55	D	T	D	13	p.Arg2765His/US	uncertain significance	highly likely pathogenic
c.11258G>A	p.Arg3753Gln	missense	39	43	C0	D	T	D	8	p.Pro1429Ser/US	uncertain significance	highly likely pathogenic
c.12826C>T	p.Arg4276Trp	missense	46	101	C0	D	D	D	14	p.Leu56Argfs*15/DP	likely pathogenic	indeterminate

DP: definitely pathogenetic; HLP: highly likely pathogenic; LP: likely pathogenic; US: uncertain significance.