ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10666G>A (p.Ala3556Thr)

dbSNP: rs2036843971
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229188 SCV001401626 uncertain significance Duchenne muscular dystrophy 2023-06-03 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: 956395). This variant has not been reported in the literature in individuals affected with DMD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3556 of the DMD protein (p.Ala3556Thr).
Revvity Omics, Revvity Omics RCV003145432 SCV003829527 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828830 SCV002077593 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-30 no assertion criteria provided clinical testing

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