ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) (rs794727188)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724747 SCV000226626 pathogenic not provided 2015-04-16 criteria provided, single submitter clinical testing
Invitae RCV000175185 SCV000657373 pathogenic Bethlem myopathy 1 2016-06-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 2080 of the COL6A3 protein (p.Gly2080Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This glycine change resides within the triple helix region and has been reported in an individual affected with Bethlem myopathy (PMID: 15689448). In addition, a different missense substitution at this codon (p.Gly2080Cys) is reported to be deleterious in a patient affected with Ullrich congenital muscular dystrophy (PMID: 24271325). ClinVar contains an entry for this variant (Variation ID: 194744). Glycine residues within the triple helix region are crucial to maintain fibrillar collagens structure and stability (PMID: 7695699, 19344236). In the case of COL6A3, missense substitutions that affect glycine residues within the triplex helix domain have been reported in many patients affected with collagen VI myopathy (PMID: 24038877). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724747 SCV001250156 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing

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