ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) (rs34061568)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725139 SCV000334384 uncertain significance not provided 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000725139 SCV000616703 uncertain significance not provided 2017-08-04 criteria provided, single submitter clinical testing The K983T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K983T variant is observed in 59/66,734 (0.09%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals, 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 DYSF-related disorders (Stenson et al., 2014).
Illumina Clinical Services Laboratory,Illumina RCV000270967 SCV000431779 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325795 SCV000431780 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000648026 SCV000769836 benign Dysferlinopathy 2017-12-21 criteria provided, single submitter clinical testing

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