ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) (rs146403258)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485851 SCV000571872 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing The E349Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The E349Q 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 missense variants in nearby residues (L353P; V354A/G) have been reported in the Human Gene Mutation Database in association with limb girdle muscular dystrophy (Stenson et al., 2014). However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000261355 SCV000391011 uncertain significance Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318913 SCV000391012 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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