ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4765G>A (p.Ala1589Thr)

gnomAD frequency: 0.00001  dbSNP: rs770347305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318512 SCV001509218 uncertain significance Duchenne muscular dystrophy 2023-02-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1019121). 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. 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. This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is present in population databases (rs770347305, gnomAD 0.001%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1589 of the DMD protein (p.Ala1589Thr).
Natera, Inc. RCV001830315 SCV002093575 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-12-04 no assertion criteria provided clinical testing

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