ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg)

gnomAD frequency: 0.00004  dbSNP: rs146880270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240597 SCV001413560 uncertain significance Duchenne muscular dystrophy 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1334 of the DMD protein (p.Gly1334Arg). This variant is present in population databases (rs146880270, gnomAD 0.02%). This missense change has been observed in individual(s) with dilated cardiomyopathy and/or Duchenne muscular dystrophy (PMID: 25163546; Invitae). This variant is also known as c.G3988A (p.G1330R). ClinVar contains an entry for this variant (Variation ID: 966017). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002491795 SCV002779425 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834124 SCV002085375 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-07 no assertion criteria provided clinical testing

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