ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1064G>C (p.Arg355Pro) (rs61368398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000056768 SCV000337080 uncertain significance not provided 2015-10-30 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000664050 SCV000787471 likely pathogenic Myofibrillar myopathy 1 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Myopathy, myofibrillar, 1, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3 => Well-established functional studies show a deleterious effect (PMID:20696008).
Invitae RCV000799745 SCV000939421 uncertain significance Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 355 of the DES protein (p.Arg355Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with cardiac and skeletal myopathy (PMID: 16009553, 20696008, 22153487). ClinVar contains an entry for this variant (Variation ID: 66389). 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: "Benign"; 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.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056768 SCV000087881 not provided not provided no assertion provided not provided

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