ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg)

gnomAD frequency: 0.00005  dbSNP: rs1003478010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002540102 SCV001035446 benign KBG syndrome 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363338 SCV002666491 uncertain significance Inborn genetic diseases 2018-06-22 criteria provided, single submitter clinical testing The p.G2254R variant (also known as c.6760G>A), located in coding exon 7 of the ANKRD11 gene, results from a G to A substitution at nucleotide position 6760. The glycine at codon 2254 is replaced by arginine, an amino acid with dissimilar 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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