ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5609C>T (p.Ala1870Val)

dbSNP: rs864309571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202742 SCV000257849 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345725 SCV002648897 uncertain significance Inborn genetic diseases 2018-11-28 criteria provided, single submitter clinical testing The p.A1870V variant (also known as c.5609C>T), located in coding exon 7 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 5609. The alanine at codon 1870 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly 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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