ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1396-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1331260332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729510 SCV000857179 pathogenic not provided 2017-09-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000729510 SCV001248171 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535822 SCV004119448 likely pathogenic COL6A2-related disorder 2023-07-31 criteria provided, single submitter clinical testing The COL6A2 c.1396-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant is predicted to abolish the canonical splice acceptor site and activate an out-of-frame cryptic acceptor (Alamut Visual Plus v1.6.1). Therefore, this variant could cause skipping of exon 17 (inducing an in-frame deletion) or a frameshift and premature termination. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in COL6A2 are expected to be pathogenic. This variant is interpreted as likely pathogenic; however, given the uncertainty of biological impact we cannot determine if this variant would cause autosomal dominant or recessive disease.

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