ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) (rs58687088)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316353 SCV001506970 uncertain significance Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-08-20 criteria provided, single submitter clinical testing This variant, c.1097_1099del, results in the deletion of 1 amino acid(s) of the DES protein (p.Asn366del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with desminopathy (PMID: 14648196). Experimental studies have shown that this variant affects DES protein function (PMID: 14648196). 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.
OMIM RCV000018326 SCV000038605 pathogenic Myofibrillar myopathy 1 2020-08-29 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056771 SCV000087884 not provided not provided no assertion provided not provided

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