ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro) (rs1567533174)

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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 RCV000719650 SCV000850520 uncertain significance Autism spectrum disorder 2017-03-14 criteria provided, single submitter clinical testing The p.L2616P variant (also known as c.7847T>C), located in coding exon 11 of the ANKRD11 gene, results from a T to C substitution at nucleotide position 7847. The leucine at codon 2616 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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