ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1325C>T (p.Thr442Ile)

dbSNP: rs121913005
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000056784 SCV000331912 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV000811753 SCV000952036 pathogenic Desmin-related myofibrillar myopathy 2018-12-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects desmin assembly and aggregate formation (PMID: 17221859, 21262226). This variant has been reported to segregate with autosomal dominant cardiac and skeletal myopathy in families (PMID: 17221859, 22153487) and has been reported in several individuals affected with autosomal dominant myofibrillar myopathy and desmin-related myopathy (PMID:18653338, 22215463). ClinVar contains an entry for this variant (Variation ID: 16834). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 442 of the DES protein (p.Thr442Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.
CeGaT Center for Human Genetics Tuebingen RCV000056784 SCV001248942 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
OMIM RCV000811753 SCV000038607 pathogenic Desmin-related myofibrillar myopathy 2007-04-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056784 SCV000087897 not provided not provided no assertion provided not provided

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