ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1957-10G>A

gnomAD frequency: 0.00003  dbSNP: rs761863286
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215116 SCV001386840 uncertain significance Bethlem myopathy 1 2022-08-09 criteria provided, single submitter clinical testing 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 944665). This variant has not been reported in the literature in individuals affected with COL6A1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change falls in intron 30 of the COL6A1 gene. It does not directly change the encoded amino acid sequence of the COL6A1 protein.

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