ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3680-14C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003007618 SCV003307000 uncertain significance Bethlem myopathy 1A 2023-07-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 2086705). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the COL6A3 gene. It does not directly change the encoded amino acid sequence of the COL6A3 protein.

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