ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.954+5G>C

gnomAD frequency: 0.00002  dbSNP: rs750755566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001237717 SCV001410490 pathogenic Bethlem myopathy 1A 2021-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with clinical features of type VI collagenopathy (Invitae). In at least one individual the variant was observed to be de novo. This variant is present in population databases (rs750755566, ExAC 0.006%). This sequence change falls in intron 9 of the COL6A2 gene. It does not directly change the encoded amino acid sequence of the COL6A2 protein, but it affects a nucleotide within the consensus splice site of the intron.
Revvity Omics, Revvity RCV003490147 SCV004235447 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing

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