ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4456C>T (p.Arg1486Trp) (rs189656772)

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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 RCV000719456 SCV000850323 uncertain significance Autism spectrum disorder 2016-11-22 criteria provided, single submitter clinical testing The p.R1486W variant (also known as c.4456C>T), located in coding exon 7 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 4456. The arginine at codon 1486 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs189656772. Based on data from the 1000 Genomes Project, the T allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.94% (1/106) African-American SW alleles. This amino acid position is well conserved on limited sequence alignment. 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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