ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.697A>G (p.Thr233Ala)

gnomAD frequency: 0.00001  dbSNP: rs1429767974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752695 SCV001997615 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Revvity Omics, Revvity RCV001752695 SCV003830057 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003621606 SCV004534917 uncertain significance Duchenne muscular dystrophy 2023-05-27 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1311712). This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 233 of the DMD protein (p.Thr233Ala).

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