ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3577G>A (p.Ala1193Thr) (rs111737495)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719751 SCV000850621 uncertain significance Autism spectrum disorder 2017-04-21 criteria provided, single submitter clinical testing The p.A1193T variant (also known as c.3577G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 3577. The alanine at codon 1193 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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