Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Table 1

DYSF	c.959G>C p.W320S, paternal	c.4794G>T p.K1598N
Interpretation	VUS	VUS
ESP & ExAC	ESP: NR; ExAC: NR	ESP: 2/8598; ExAC: 4/121348
SIFT/PolyPhen/MutationTaster	Damaging/probably damaging/disease causing	Tolerated/probably damaging/disease causing
Location (gene; protein)	Exon 11; ferlin family domain	Exon 43; C2 domain F
Previously reported variants in affected individuals	This variant has never been reported; however, there is a previously reported variant in an affected individual in close proximity: p.L322P	This variant has been reported in one affected individual and there are two variants in affected individuals in close proximity: c.4794+1G>A and p.Gly1547_Lys1598del
Diseases associated with DYSF variants	Autosomal recessive Miyoshi muscular dystrophy 1, autosomal recessive limb-girdle muscular dystrophy type 2B, autosomal recessive distal myopathy with anterior tibial onset

VUS: variant of uncertain significance; ESP: National Heart Lung and Blood Institute Exome Sequencing Project; ExAC: Exome Aggregation Consortium; NR: not reported.