ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1003-3C>A

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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 RCV005196239 SCV005840658 pathogenic Bethlem myopathy 1A 2024-05-24 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the COL6A1 gene. It does not directly change the encoded amino acid sequence of the COL6A1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Bethlem myopathy and/or clinical features of type VI collagenopathy (PMID: 15689448; Invitae). In at least one individual the variant was observed to be de novo. Variants that disrupt 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. For these reasons, this variant has been classified as Pathogenic.

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