ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.394G>T (p.Glu132Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV004691692 SCV005187370 likely pathogenic Allan-Herndon-Dudley syndrome 2021-01-22 criteria provided, single submitter clinical testing This nonsense variant (c.394G>T, p.Glu132*) has not been observed in population databases (gnomAD) and has not been described in the literature. No functional studies have been published. It has been seen in an affected male, his sister (who is reported to be a manifesting carrier), and their mother.

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