ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) (rs200970855)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000301411 SCV000338043 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Invitae RCV000543999 SCV000649704 uncertain significance Dysferlinopathy 2017-07-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 155 of the DYSF protein (p.Gly155Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200970855, ExAC 0.04%). This variant has been reported in the heterozygous state in an individual affected with limb girdle muscular dystrophy (PMID: 26077850). ClinVar contains an entry for this variant (Variation ID: 285148). Experimental studies in vitro have shown that this missense change alters mRNA splicing and leads to a partial deletion of exon 6 (PMID: 18853459). In summary, this variant is a rare missense change. Experimental evidence has shown that it may affect mRNA splicing and protein function. However, because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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