ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.717+4A>G (rs762867111)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725541 SCV000337615 likely pathogenic not provided 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000725541 SCV000582906 uncertain significance not provided 2020-04-10 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 32065942, 30564623, 32403337)
Invitae RCV000653543 SCV000775424 uncertain significance Bethlem myopathy 1 2020-09-13 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the COL6A1 gene. It does not directly change the encoded amino acid sequence of the COL6A1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs762867111, ExAC 0.2%). This variant has been observed in individual(s) with autosomal recessive type VI collagenopathy or clinical suspicion of limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 284826). 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 may disrupt the consensus splice site, 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.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000653543 SCV000803836 pathogenic Bethlem myopathy 1 2016-06-23 criteria provided, single submitter clinical testing

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