ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1147C>T (p.Arg383Cys)

gnomAD frequency: 0.00001  dbSNP: rs748945548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043088 SCV001206802 uncertain significance Desmin-related myofibrillar myopathy 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 383 of the DES protein (p.Arg383Cys). This variant is present in population databases (rs748945548, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DES-related conditions. ClinVar contains an entry for this variant (Variation ID: 840964). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528706 SCV001740908 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528706 SCV001951111 uncertain significance not provided no assertion criteria provided clinical testing

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