ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.68C>T (p.Thr23Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004724233 SCV005333264 pathogenic not provided 2024-02-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33268356, 35599849)
PreventionGenetics, part of Exact Sciences RCV004731688 SCV005338114 uncertain significance H3-3A-related disorder 2024-04-11 no assertion criteria provided clinical testing The H3-3A c.68C>T variant is predicted to result in the amino acid substitution p.Thr23Ile. This variant was reported in at least two individuals with Neurodegenerative disease and in at least one individual was this variant observed de novo (Figure 1 as T22I, Bryant et al 2020. PubMed ID: 33268356; Table 1, Elliott et al. 2022. PubMed ID: 35599849). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect this variant may be pathogenic, 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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