ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile)

dbSNP: rs1555996685
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520622 SCV000619563 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing The T3609I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T3609I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This 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, however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with dystrophinopathies (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Baylor Genetics RCV001332367 SCV001524675 uncertain significance Becker muscular dystrophy 2020-01-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001829502 SCV002077582 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-03-27 no assertion criteria provided clinical testing

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