ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1201G>A (p.Glu401Lys) (rs57694264)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064294 SCV001229186 likely pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2019-05-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 401 of the DES protein (p.Glu401Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with myopathy, dysphagia, cardiomyopathy, and respiratory weakness (PMID: 16865695). ClinVar contains an entry for this variant (Variation ID: 66397). This variant has been reported to affect DES protein function (PMID: 21262226, 16865695). This variant disrupts the p.Glu401 amino acid residue in DES. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29212896). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056780 SCV000087893 not provided not provided no assertion provided not provided

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