ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2554G>C (p.Ala852Pro) (rs748327110)

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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 RCV000386807 SCV000337118 uncertain significance not provided 2016-01-25 criteria provided, single submitter clinical testing
Invitae RCV000553854 SCV000657033 uncertain significance Bethlem myopathy 1 2017-07-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 852 of the COL6A1 protein (p.Ala852Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a COL6A1-related disease. ClinVar contains an entry for this variant (Variation ID: 284476). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on COL6A1 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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