ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2533A>G (p.Ser845Gly)

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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 RCV004752374 SCV005358597 uncertain significance KANSL1-related disorder 2024-03-15 no assertion criteria provided clinical testing The KANSL1 c.2533A>G variant is predicted to result in the amino acid substitution p.Ser845Gly. 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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