ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)

gnomAD frequency: 0.00001  dbSNP: rs773299186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432889 SCV000536559 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DMD gene. The N370I variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N370I 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. Nevertheless, this substitution occurs at a position that is not conserved. Additionally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Fulgent Genetics, Fulgent Genetics RCV002488986 SCV002790152 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002526364 SCV003283194 likely benign Duchenne muscular dystrophy 2024-11-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833571 SCV002090409 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-12-19 no assertion criteria provided clinical testing

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