ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) (rs114284669)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724543 SCV000232197 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000247969 SCV000310157 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515295 SCV000611468 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000653501 SCV000775382 uncertain significance Bethlem myopathy 1 2018-09-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1014 of the COL6A3 protein (p.Lys1014Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs114284669, ExAC 0.03%). This variant has been reported in an individual affected with Bethlem myopathy (PMID: 15689448, 18378883). ClinVar contains an entry for this variant (Variation ID: 162547). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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