ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7167T>G (p.Phe2389Leu) (rs927582667)

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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 RCV000719097 SCV000849961 uncertain significance Autism spectrum disorder 2016-04-15 criteria provided, single submitter clinical testing The p.F2389L variant (also known as c.7167T>G), located in coding exon 7 of the ANKRD11 gene, results from a T to G substitution at nucleotide position 7167. The phenylalanine at codon 2389 is replaced by leucine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), 1000 Genomes Project, and ExAC. In the ESP, this variant was not observed in 5899 samples (11798 alleles) with coverage at this position. 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 variant remains unclear.

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