ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3545C>T (p.Pro1182Leu) (rs768064422)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547662 SCV000657293 uncertain significance Bethlem myopathy 1 2018-05-16 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 1182 of the COL6A3 protein (p.Pro1182Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs768064422, ExAC 0.005%). This variant has not been reported in the literature in individuals with a COL6A3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on COL6A3 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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