Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Table 2 Suspected pathogenic homozygous variants detected by the MYO-SEQ project in dystroglycanopathy-associated genes

Patient	Gene	Location			Predicted deleteriousness				ClinVar clinical significance	gnomAD allele frequency
Patient	Gene	hg19 co-ordinates	Protein change	Sequence change	SIFT	PolyPhen-2	MutationTaster2	FATHMM	ClinVar clinical significance	gnomAD allele frequency
1	DPM3	chr1:155112676	p.Leu44Pro	c.131T>C	Damaging	Probably damaging	Disease causing	Tolerated	No	0.000016^a
2	FKRP	chr19:47259533	p.Leu276Ile	c.826C>A	Tolerated	Benign	Disease causing	Damaging	Pathogenic; likely pathogenic	0.001089^a
3	FKRP	chr19:47259251	p.Tyr182His	c.544T>C	–	Probably damaging	Disease causing	Damaging	Uncertain	0.000018^a
4	FKRP	chr19:47259533	p.Leu276Ile	c.826C>A	Tolerated	Benign	Disease causing	Damaging	Pathogenic; likely pathogenic	0.001089^a
5	FKRP	chr19:47259533	p.Leu276Ile	c.826C>A	Tolerated	Benign	Disease causing	Damaging	Pathogenic; likely pathogenic	0.001089^a
6	FKRP	chr19:47259533	p.Leu276Ile	c.826C>A	Tolerated	Benign	Disease causing	Damaging	Pathogenic; likely pathogenic	0.001089^a
7	FKRP	chr19:47259533	p.Leu276Ile	c.826C>A	Tolerated	Benign	Disease causing	Damaging	Pathogenic; likely pathogenic	0.001089^a
8	FKRP	chr19:47259533	p.Leu276Ile	c.826C>A	Tolerated	Benign	Disease causing	Damaging	Pathogenic; likely pathogenic	0.001089^a
22	POMT2	chr14:77767536	p.Gly238Val	c.713G>T	Tolerated	Possibly damaging	Disease causing	Damaging	Uncertain	0.000000^a

ISSN: 2044-5040