Table 3.

Genetic and clinical features of participants with likely pathogenic or pathogenic variants

Gene	Variant class	Coding DNA change	Protein change	Sex	Ethnicity	Age at diabetes diagnosis, year	Current age, year	Taking insulin	Other conditions	Diabetes in a parent	Current BMI, kg/m2	Current HbA1c, % (IFCC, mmol/mol)	C-peptide, pmol/L	T1DM Abs	EMPC score, %
GCK	P	574C>T	Arg192Trpa	F	Caucasian	20	22	No		Yes	20	6.1 (43)	321	Pos	76
GCK	P	1133C >A	Ala378Asp	F	Caucasian	29	42	No	Subclinical hypothyroidism	Yes	28	6.6 (49)	536	Neg	36
GCK	P	574C>T	Arg192Trpa	M	Caucasian	26	33	No		Yes	23	6.0 (42)	nd	Neg	76
GCK	LP	952G>A	Gly318Arg	F	Caucasian	27	27	Yes		Yes	23	6.0 (42)	nd	Neg	49
GCK	VUS (→LP)	554 T>C	Leu185Pro	M	Caucasian	35	38	No		Yes	24	6.8 (51)	724	Neg	15
HNF1A	P	1522G>T	Glu508*	F	Caucasian	28	30	Yes		Yes	40	6.3 (45)	nd	nd	15
HNF1A	P	872dupC	Gly292Argfs*25	M	Caucasian	23	25	No	Dyslipidaemia	Yes	20	5.8 (40)	400	Neg	76
HNF1A	LP	404delA	Asp135Valfs*20	F	Caucasian	24	44	Yes	Dyslipidaemia	Yes	21	5.9 (41)	516	Neg	49
HNF4A	LP	406C>T	Arg136Trp	F	Caucasian	32	56	No		Unk	19	6.5 (48)	2367	Neg	n/a
MT-TL1	P	m.3243A>G	n/a	F	Caucasian	44	58	Yes	Deafness, short stature, myalgia and congenital single kidney	Yes	18	6.9 (52)	nd	Neg	n/a
MT-TL1	P	m.3243A>G	n/a	F	Indian	28	31	Yes	Miscarriage	Yes	20	6.0 (42)	1041	Neg	49

Current refers to time of genetic testing

Abs antibodies, EMPC Exeter MODY probability calculator, F female, LP likely pathogenic, M male, n/a not applicable, nd not done, neg negative, P pathogenic, pos positive, T1DM type 1 diabetes mellitus, unk unknown and VUS variant of uncertain significance

^aNo known relationship between the two affected individuals with this variant despite its rarity