ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6063_6071del (p.Pro2022_Pro2024del) (rs771037147)

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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 RCV000718864 SCV000849728 uncertain significance Autism spectrum disorder 2017-05-28 criteria provided, single submitter clinical testing The c.6063_6071delTCCTGCCCC variant (also known as p.P2022_P2024del) is located in coding exon 7 of the ANKRD11 gene. This variant results from an in-frame TCCTGCCCC deletion at nucleotide positions 6063 to 6071. This results in the in-frame deletion of PAP at codons 2022 to 2024. These amino acid positions are conserved on limited sequence alignment. In addition, this alteration is predicted to be neutral by PROVEAN in silico analysis (Choi Y et al., PLoS ONE 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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