ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV003222503 SCV003915855 pathogenic Allan-Herndon-Dudley syndrome 2023-03-01 criteria provided, single submitter clinical testing The SLC16A2 c.1015dupT mutation (p.Phe388fs) is a frameshift mutation and its result is a truncated or nonfunctional protein. SLC16A2 gene is associated with X-linked recessive Allen-Hrendon-Dolly syndrome. This variant is not present in population databases (ExAC no frequency) , was not found in 1000G, Genom AD exome, and Iranom. This variant has not been reported in the literature in individuals affected with SLC16A2-related conditions. we observed two brothers with similar clinical symptoms and his mother was carrier for this novel mutation. This variant predicted as Pathogenic according to ACMG.

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