ClinVar Miner

Submissions for variant NM_057164.5(COL6A3):c.92-6497_92-6495del (rs554176183)

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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 RCV000332703 SCV000343234 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Invitae RCV000539312 SCV000657444 uncertain significance Bethlem myopathy 1 2016-10-25 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 4 of the COL6A3 mRNA (c.898_900delTCC). This leads to the deletion of 1 amino acid residue in the COL6A3 protein (p.Ser300del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs554176183, ExAC 0.003%) but has not been reported in the literature in individuals with a COL6A3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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