ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1540G>A (p.Ala514Thr) (rs760815168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594225 SCV000701479 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Invitae RCV000532828 SCV000656994 uncertain significance Bethlem myopathy 1 2016-11-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 514 of the COL6A1 protein (p.Ala514Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs760815168, ExAC 0.05%) but has not been reported in the literature in individuals with a COL6A1-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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