ClinVar Miner

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

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Total submissions: 5
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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 2020-10-13 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 Myofibrillar myopathy 1 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: PP3,PP4.
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580010 SCV001809360 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001580010 SCV001923007 uncertain significance not provided no assertion criteria provided clinical testing

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