Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait

Table 1

Exome sequencing results. Findings are presented by the degree of pathogenicity predicted by various methods.

Gene	Variant	Variant ID^a	ExAC freq. ()	Variant impact prediction^b		ACMG class	Associated disease Inheritance Pattern^c
				Sift; PolyPhen	Mutation; Tester
NPHS2	V260E	rs775006954	0.005	Del.	GScore: 121; Pp: 1.0	Pathogenic	Steroid Resistant Nephrotic Syndrome, AR
TTN	T587Hfr11Ter	NA	NR	LoF	GScore: NA; Pp: 1.0	VUS	Various cardiac and muscle disorders, AD/AR
SCN1A	R604C	rs148371904	0.002	Del.	GScore: 180; Pp: 1.0	VUS	Epilepsy, Familial Migraine, AD
SCN11A	R838Q	rs149681198	0.007	Del.	GScore: 43; Pp: 0.97	Likely pathogenic	Familial Episodic Pain, AD
SPTBN4	R527W	NA	NR	Del.	GScore: 101; Pp: 0.99	VUS	Congenital myopathy with neuropathy, AR
HSPG2	R2196W	rs566319401	0.003	Del.	GScore: 101; Pp: 0.77	VUS	Schwartz-Jampel syndrome, AR
DSG	L171F	rs199926617	0.002	Del.	GScore: 22; Pp: 0.50	VUS	Arrhythmogenic Right Ventricular Dysplasia, AD/AR

^aNA or NR – Not available or not reported
^bDel. - Deleterious; LoF – Loss of function; GScore: Grantham Score scores substitutions according to the degree of the physico- chemical difference between the original and the new amino acid; Pp: The probability of the prediction, a value close to 1 indicates a high probability of pathogenicity.
^cAD – Autosomal Dominant; AR- Autosomal Recessive.