ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1024A>G (p.Asn342Asp) (rs267607482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000133502 SCV000552181 pathogenic Myofibrillar myopathy 1 2016-12-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 342 of the DES protein (p.Asn342Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (rs267607482, ExAC no frequency). This variant has been reported in several families and individuals affected with desmin-related myofibrillar myopathy (PMID: 22215463, 10717012, 12609507, 20423733, 22153487). In one of these families, this variant was shown to arise de novo (PMID: 12609507). ClinVar contains an entry for this variant (Variation ID: 66388). Experimental studies have shown that this missense change impairs desmin filamentous network formation and causes cytoplasmic desmin aggregates in vitro (PMID: 22403400, 12609507). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001380949 SCV001579179 pathogenic Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2016-12-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 342 of the DES protein (p.Asn342Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant is not present in population databases (rs267607482, ExAC no frequency). This variant has been reported in several families and individuals affected with desmin-related myofibrillar myopathy (PMID: 22215463, 10717012, 12609507, 20423733, 22153487). In one of these families, this variant was shown to arise de novo (PMID: 12609507). ClinVar contains an entry for this variant (Variation ID: 66388). Experimental studies have shown that this missense change impairs desmin filamentous network formation and causes cytoplasmic desmin aggregates in vitro (PMID: 22403400, 12609507). For these reasons, this variant has been classified as Pathogenic.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056764 SCV000087877 not provided not provided no assertion provided not provided
OMIM RCV000133502 SCV000188576 pathogenic Myofibrillar myopathy 1 2010-08-01 no assertion criteria provided literature only

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