ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6254G>T (p.Cys2085Phe) (rs755786402)

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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 RCV000718698 SCV000849562 uncertain significance Autism spectrum disorder 2018-05-14 criteria provided, single submitter clinical testing The p.C2085F variant (also known as c.6254G>T), located in coding exon 7 of the ANKRD11 gene, results from a G to T substitution at nucleotide position 6254. The cysteine at codon 2085 is replaced by phenylalanine, an amino acid with highly dissimilar 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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