ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3621G>C (p.Glu1207Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV001089974 SCV001245002 uncertain significance KBG syndrome 2018-09-09 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_013275.5(ANKRD11):c.3621G>C, has been identified in exon 9 of 11 of the ANKRD11 gene. The variant is predicted to result in a minor amino acid change from glutamic acid to aspartic acid at position 1207 of the protein (NM_013275.5(ANKRD11):p.(Glu1207Asp)). The glutamic acid residue at this position has low conservation (100 vertebrates, UCSC), with the aspartic acid residue observed in some mammals. It is not located within a well established functional domain. In silico predictions for this variant are consistently benign (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G), but has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as VARIANT of UNCERTAIN SIGNIFICANCE (VUS) with LOW CLINICAL RELEVANCE.

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