ClinVar Miner

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

dbSNP: rs57694264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064294 SCV001229186 likely pathogenic Desmin-related myofibrillar myopathy 2019-05-10 criteria provided, single submitter clinical testing 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. 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. This variant has been reported to affect DES protein function (PMID: 21262226, 16865695). 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 is not present in population databases (ExAC no frequency). 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.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056780 SCV000087893 not provided not provided no assertion provided not provided

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