ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala)

gnomAD frequency: 0.00002  dbSNP: rs768016083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547650 SCV000625834 uncertain significance Duchenne muscular dystrophy 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 3675 of the DMD protein (p.Thr3675Ala). This variant is present in population databases (rs768016083, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 455858). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002431527 SCV002740518 uncertain significance Cardiovascular phenotype 2020-05-06 criteria provided, single submitter clinical testing The p.T3675A variant (also known as c.11023A>G), located in coding exon 78 of the DMD gene, results from an A to G substitution at nucleotide position 11023. The threonine at codon 3675 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species; however, alanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483346 SCV002794378 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829537 SCV002076952 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-07-06 no assertion criteria provided clinical testing

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