Submissions for variant NM_001130987.2(DYSF):c.2011G>A (p.Gly671Ser)

gnomAD frequency: 0.00006  dbSNP: rs538170367

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000348203	SCV000335626	uncertain significance	not provided	2015-09-22	criteria provided, single submitter	clinical testing
Invitae	RCV001466761	SCV001670770	likely benign	Qualitative or quantitative defects of dysferlin	2023-12-26	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV001823130	SCV002073026	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B		criteria provided, single submitter	clinical testing	The missense variant p.G653S in DYSF (NM_003494.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant has been submitted to ClinVar as Uncertain Significance. The p.G653S variant is observed in 14/30,534 (0.0459%) alleles from individuals of South Asian background in gnomAD Exomes and in 2/978 (0.2045%) alleles from individuals of South Asian background in 1000 Genomes. The p.G653S missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.1957 in DYSF is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.