ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1255C>T (p.Pro419Ser) (rs62635763)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000056783 SCV000336776 likely pathogenic not provided 2016-03-07 criteria provided, single submitter clinical testing
Invitae RCV000817811 SCV000958394 pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 419 of the DES protein (p.Pro419Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant desminopathies in several families (PMID:17418574, 22153487, 22395865, 26431784). ClinVar contains an entry for this variant (Variation ID: 39718). Experimental studies have shown that this missense change forms filaments and does not induce aggregation in cell lines (PMID: 23032110). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000032923 SCV000056695 pathogenic Myofibrillar myopathy 1 2012-09-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056783 SCV000087896 not provided not provided no assertion provided not provided
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea RCV000032923 SCV000882769 pathogenic Myofibrillar myopathy 1 2019-02-11 no assertion criteria provided research

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