ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6060_6061delinsGC (p.Ser2021Pro) (rs1567559902)

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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 RCV000718305 SCV000849167 uncertain significance Autism spectrum disorder 2018-05-22 criteria provided, single submitter clinical testing The c.6060_6061delCTinsGC variant, located in coding exon 7 of the ANKRD11 gene, results from a deletion of CT and insertion of GC at nucleotide positions 6060 to 6061. This results in the substitution of the serine residue for a proline residue at codon 2021, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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