ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4888C>T (p.Pro1630Ser) (rs145560772)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725387 SCV000336538 uncertain significance not provided 2015-10-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194796 SCV000247082 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing
Invitae RCV000693810 SCV000822228 uncertain significance Bethlem myopathy 1 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1630 of the COL6A3 protein (p.Pro1630Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs145560772, ExAC 0.1%). This variant has not been reported in the literature in individuals with COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 210751). 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: "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.

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