ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5839-3C>T (rs112825341)

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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 RCV000725144 SCV000334431 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000264739 SCV000528678 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000556869 SCV000657357 uncertain significance Bethlem myopathy 1 2018-08-16 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the COL6A3 gene. It does not directly change the encoded amino acid sequence of the COL6A3 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs112825341, ExAC 0.1%). This variant has not been reported in the literature in individuals with a COL6A3-related disease. ClinVar contains an entry for this variant (Variation ID: 282789). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). 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, 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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