ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7671G>A (p.Met2557Ile) (rs1567544079)

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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 RCV000719970 SCV000850844 uncertain significance Autism spectrum disorder 2017-05-18 criteria provided, single submitter clinical testing The p.M2557I variant (also known as c.7671G>A), located in coding exon 9 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 7671. The methionine at codon 2557 is replaced by isoleucine, an amino acid with highly similar 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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