ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1123C>T (p.Arg375Trp) (rs375218723)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544077 SCV000654164 uncertain significance Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2019-11-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 375 of the DES protein (p.Arg375Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs375218723, ExAC 0.01%). This variant has not been reported in the literature in individuals with DES-related disease. ClinVar contains an entry for this variant (Variation ID: 201707). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197235 SCV001367872 uncertain significance mitochondrial 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP4. This variant was detected in heterozygous state.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256941 SCV001433463 uncertain significance Dilated cardiomyopathy 1A 2019-09-17 criteria provided, single submitter clinical testing

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