ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1740+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818955 SCV005438961 uncertain significance Bethlem myopathy 1A criteria provided, single submitter clinical testing The observed splice region variant c.1740+5G>A in the COL6A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. This splice region variant in intron 26 affects the position five nucleotides downstream of exon 26. The variant is predicted to be damaging by SpliceAI prediction tool. For these reasons, this variant has been classified as Uncertain Significance VUS.

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