ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6448G>A (p.Asp2150Asn)

dbSNP: rs1567557144
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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 RCV002315458 SCV000849369 uncertain significance Inborn genetic diseases 2017-04-18 criteria provided, single submitter clinical testing The p.D2150N variant (also known as c.6448G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 6448. The aspartic acid at codon 2150 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not 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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