ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5716G>A (p.Ala1906Thr) (rs1428749185)

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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 RCV000715853 SCV000846685 uncertain significance Autism spectrum disorder 2018-07-27 criteria provided, single submitter clinical testing The p.A1906T variant (also known as c.5716G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 5716. The alanine at codon 1906 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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