ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2962T>C (p.Ser988Pro)

dbSNP: rs2040307294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203588 SCV001374761 uncertain significance Duchenne muscular dystrophy 2019-08-02 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 988 of the DMD protein (p.Ser988Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). 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: "Deleterious"; PolyPhen-2: "Probably 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572693 SCV001797453 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001572693 SCV001956881 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001833791 SCV002089644 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-02-23 no assertion criteria provided clinical testing

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