ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4271C>A (p.Ser1424Tyr) (rs1567569737)

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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 RCV000719805 SCV000850675 uncertain significance Autism spectrum disorder 2017-05-23 criteria provided, single submitter clinical testing The p.S1424Y variant (also known as c.4271C>A), located in coding exon 7 of the ANKRD11 gene, results from a C to A substitution at nucleotide position 4271. The serine at codon 1424 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is 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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