ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10261G>A (p.Ala3421Thr)

dbSNP: rs2040705871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214462 SCV001386145 uncertain significance Duchenne muscular dystrophy 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3421 of the DMD protein (p.Ala3421Thr). This variant is not present in population databases (gnomAD no frequency). 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: 944130). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003145397 SCV003829516 uncertain significance not provided 2019-05-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828708 SCV002077608 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-18 no assertion criteria provided clinical testing

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