ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.3457T>C (p.Ser1153Pro)

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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 RCV004550644 SCV004112492 uncertain significance CAMTA1-related disorder 2023-03-06 criteria provided, single submitter clinical testing The CAMTA1 c.3457T>C variant is predicted to result in the amino acid substitution p.Ser1153Pro. 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. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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