Submissions for variant NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003226741	SCV003922900	likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy	2023-03-15	criteria provided, single submitter	clinical testing	Variant summary: DYSF c.3037G>T (p.Glu1013X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 249850 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3037G>T in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics	RCV003466044	SCV004192267	likely pathogenic	Miyoshi muscular dystrophy 1	2023-01-12	criteria provided, single submitter	clinical testing