ClinVar Miner

Submissions for variant NM_015312.3(KIAA1109):c.2431A>G (p.Thr811Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Bioinformatics RCV001251434 SCV001160663 likely pathogenic Alkuraya-Kucinskas syndrome 2020-02-09 criteria provided, single submitter case-control The Thr811Ala variant has been found to segregate in four individuals from two related families. It was inherited in autosomal recessive mode of inheritance and was absent from large population studies. It is located in a highly conserved region and likely a pathogenic mutation.

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