ClinVar Miner

Submissions for variant NM_014967.5(FAN1):c.2802C>A (p.Cys934Ter)

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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 RCV004732206 SCV005340213 likely pathogenic FAN1-related disorder 2024-07-29 no assertion criteria provided clinical testing The FAN1 c.2802C>A variant is predicted to result in premature protein termination (p.Cys934*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant is not reported in the ClinVar database. Nonsense variants in FAN1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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