Submissions for variant NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) (rs149081471)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000723765	SCV000111875	uncertain significance	not provided	2013-11-05	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000354011	SCV000380233	uncertain significance	Congenital Muscular Dystrophy, ITGA7-related	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000079984	SCV000569114	uncertain significance	not specified	2017-03-27	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the ITGA7 gene. The G857S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G857S variant is observed in 248/66,714 (0.4%) alleles from individuals of European background in the ExAC dataset, which is greater than expected for this disorder (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G857S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with ITGA7-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant
Invitae	RCV000723765	SCV000648321	likely benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing