ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2685_2686dup (p.Gln896fs)

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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 RCV004550647 SCV004112506 pathogenic CAMTA1-related disorder 2023-01-30 criteria provided, single submitter clinical testing The CAMTA1 c.2685_2686dupGC variant is predicted to result in a frameshift and premature protein termination (p.Gln896Argfs*21). 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. This variant has been observed de novo in an individual with features consistent with CAMTA1-associated disease (Internal Data, PreventionGenetics). Frameshift variants in CAMTA1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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