ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2656G>A (p.Gly886Ser) (rs571488000)

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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 RCV000265343 SCV000338882 uncertain significance not provided 2016-01-23 criteria provided, single submitter clinical testing
Invitae RCV000702321 SCV000831170 uncertain significance Bethlem myopathy 1 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 886 of the COL6A2 protein (p.Gly886Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs571488000, ExAC 0.2%). This variant has not been reported in the literature in individuals with COL6A2-related disease. ClinVar contains an entry for this variant (Variation ID: 285730). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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