ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3736C>T (p.His1246Tyr) (rs1170311302)

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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 RCV000716589 SCV000847430 uncertain significance Autism spectrum disorder 2016-07-28 criteria provided, single submitter clinical testing The p.H1246Y variant (also known as c.3736C>T), located in coding exon 7 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 3736. The histidine at codon 1246 is replaced by tyrosine, an amino acid with 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), and 1000 Genomes Project. In the ESP, this variant was not observed in 6498 samples (12996 alleles) with coverage at this position. This amino acid position is poorly 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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