Submissions for variant NM_001130987.2(DYSF):c.952-3C>G

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV003337876	SCV004048259	uncertain significance	Miyoshi muscular dystrophy 1		criteria provided, single submitter	clinical testing	The splice site c.952-3C>G variant in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).
Neuberg Centre For Genomic Medicine, NCGM	RCV003388638	SCV004100530	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B		criteria provided, single submitter	clinical testing	The splice region variant c.952-3C>G in DYSF (NM_001130987.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.952-3C>G variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The c.952-3C>G variant is not predicted to disrupt splicing by 3 of 4 splice site algorithms. The c.952-3C>G variant results in a substitution of a base that is not predicted conserved by GERP++ and PhyloP. For these reasons, this variant has been classified as Uncertain Significance.