ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1117-3C>T (rs772428654)

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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 RCV000290534 SCV000339890 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Invitae RCV000795929 SCV000935410 uncertain significance Bethlem myopathy 1 2018-12-12 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the COL6A2 gene. It does not directly change the encoded amino acid sequence of the COL6A2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs772428654, ExAC 0.02%). This variant has not been reported in the literature in individuals with COL6A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 286451). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, 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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