ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2869G>T (p.Gly957Ter)

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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 RCV004542652 SCV004800523 likely pathogenic COL4A1-related disorder 2024-02-23 no assertion criteria provided clinical testing The COL4A1 c.2869G>T variant is predicted to result in premature protein termination (p.Gly957*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in COL4A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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