ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2079+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003410895 SCV004114163 likely pathogenic COL1A2-related disorder 2022-09-23 criteria provided, single submitter clinical testing The COL1A2 c.2079+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. 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 donor site in COL1A2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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