ClinVar Miner

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

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Total submissions: 4
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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

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