ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002620672 SCV003510934 uncertain significance Bethlem myopathy 1A 2022-01-03 criteria provided, single submitter clinical testing 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. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1719 of the COL6A3 protein (p.Thr1719Ile). This variant is present in population databases (rs557335500, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0").

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