ClinVar Miner

Submissions for variant NM_002025.4(AFF2):c.*4554C>G (rs864321652)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd RCV000203550 SCV000258910 uncertain significance FRAXE criteria provided, single submitter clinical testing Though this variant has not been reported in a clinical context, 2 other variants in the 3'UTR of AFF2, *3206C>T and *2338T>C, have been reported in males with autism. The variants were shown to alter AFF2 gene expression levels in a tissue specific manner [PMID:22773736]. Both silencing and overexpression have been implicated in ASD susceptibility [PMID:22773736], [PMID:23562910].

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