Submissions for variant NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) (rs150942486)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727399	SCV000621754	uncertain significance	not provided	2017-10-25	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the DYSF gene. The P1214L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P1214L variant is observed in 31/30780 (0.1%) alleles from individuals of South Asian background (Lek et al., 2016). The P1214L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000727399	SCV000708226	uncertain significance	not provided	2017-05-05	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000727399	SCV000892567	uncertain significance	not provided	2018-09-30	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000765698	SCV000897040	uncertain significance	Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset	2018-10-31	criteria provided, single submitter	clinical testing