ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.8009C>T (p.Ala2670Val) (rs142851023)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116801 SCV000150860 uncertain significance not provided 2013-10-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116801 SCV000338341 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515400 SCV000611469 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000550052 SCV000657419 uncertain significance Bethlem myopathy 1 2019-11-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2670 of the COL6A3 protein (p.Ala2670Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs142851023, ExAC 0.1%). This variant has been reported in an individual referred for diagnostic genetic testing, an individual with clinical suspicion of limb-girdle muscular dystrophy, and in an unaffected individual in a study of dystonia patients (PMID: 25380242, 30564623, 26004199). ClinVar contains an entry for this variant (Variation ID: 128822). 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: "Deleterious"; PolyPhen-2: "Probaby 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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