ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1034T>C (p.Leu345Pro) (rs57639980)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000056765 SCV000841804 pathogenic not provided 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV001044194 SCV001207976 pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2019-09-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 345 of the DES protein (p.Leu345Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant myofibrillar myopathy in a family (PMID: 10545598). ClinVar contains an entry for this variant (Variation ID: 16825). This variant has been reported to affect DES protein function and partially recapitulates a desminopathy phenotype in a transgenic mouse model expressing p.Leu345Pro at low levels in cardiac and skeletal muscles (PMID: 18563598, 10545598). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000056765 SCV001433465 pathogenic not provided 2020-01-03 criteria provided, single submitter clinical testing
OMIM RCV000018319 SCV000038598 pathogenic Myofibrillar myopathy 1 1999-11-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056765 SCV000087878 not provided not provided no assertion provided not provided

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