ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) (rs150432347)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000252293 SCV000111683 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000252293 SCV000308207 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271407 SCV000436568 benign Collagen VI-related myopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000531637 SCV000657040 uncertain significance Bethlem myopathy 1 2020-01-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 881 of the COL6A1 protein (p.Thr881Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs150432347, ExAC 0.1%). This variant has been reported in an individual affected with Bethlem or Ullrich congenital muscular dystrophy and has been observed in several individuals affected with limb-girdle muscular dystrophy (PMID: 15689448, 30564623). ClinVar contains an entry for this variant (Variation ID: 93863). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
GeneDx RCV000252293 SCV000717601 likely benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997844 SCV001153581 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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